| AnnotSV ID | ACMG classSV ranking class (from 1 to 5) following the 2020 joint consensus recommendation of ACMG and ClinGen | SV typeType of the SV (DEL, DUP...) | Annotation modeType of annotation lines generated: - annotation on the SV full length (full) - annotation on each gene overlapped by the SV (split) |
Gene nameGene symbol | LocationHover your mouse to highlight SV location annotations in the gene | OMIM IDHover your mouse to highlight OMIM annotations | Exomiser scoreShow how close each overlapped gene is to the patient phenotype Highly specific and consistent phenotype: score > 0.7 Consistent phenotype: score > 0.5 |
PhenoGenius specificityPhenotype specificity into one of A, B, C, D or . : A - Highly specific and relatively unique to the gene B - Consistent with the gene, highly specific, but not necessarily unique to the gene C - Limited association with the gene, not highly specific and/or with high genetic heterogeneity D - Not consistent with what is expected for the gene/genomic region or not consistent in general . - No reported phenotype |
Overlapped regulatory elementsReport the name of the genes potentially badly regulated | Pathogenic SVKnown pathogenic genes or genomic regions (with the same SV type; from ClinVar, ClinGen, dbVar, OMIM) completely overlapped with the SV to annotate | Number of pathogenic SNV/indel overlappedPathogenic SNV/indel (from ClinVar) completely overlapped with the SV to annotate | Benign SVBenign genomic regions (with the same SV type; from gnomAD, ClinVar, ClinGen, DGV, DDD, 1000g, IMH) completely overlapping the SV to annotate | Left breakpoint annotationsHover your mouse to highlight the left SV breakpoint (+/- 100bp) annotations | Right breakpoint annotationsHover your mouse to highlight the right SV breakpoint (+/- 100bp) annotations | Samples_ID | ID | REF | ALT | QUAL | FILTER | INFO | FORMAT | CHM13 | HG00438 | HG00621 | HG00673 | HG00733 | HG00735 | HG00741 | HG01071 | HG01106 | HG01109 | HG01123 | HG01175 | HG01243 | HG01258 | HG01358 | HG01361 | HG01891 | HG01928 | HG01952 | HG01978 | HG02055 | HG02080 | HG02109 | HG02145 | HG02148 | HG02257 | HG02486 | HG02559 | HG02572 | HG02622 | HG02630 | HG02717 | HG02723 | HG02818 | HG02886 | HG03098 | HG03453 | HG03486 | HG03492 | HG03516 | HG03540 | HG03579 | NA18906 | NA20129 | NA21309 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
3ACMG_class : 3 AnnotSV_ranking_score : 0.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2B (cf po_P_loss_source, HI and OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material. 3A (2 genes, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 1000 Gene_count : 2 |
fullAnnotation_mode : full |
OR9Q1; LOC124902674; [...2genes]Gene_name : OR9Q1; LOC124902674; LOEUF_bin : 8 GnomAD_pLI : 8.3932e-04 ExAC_pLI : 8.5949e-03 HI : . TS : . DDD_HI_percent : 74.98 ExAC_cnvZ : 0.94132383107999 ExAC_delZ : 0.610435651793837 ExAC_dupZ : 0.778331213061086 ExAC_synZ : -0.325533579585078 ExAC_misZ : -1.25506850987698 Closest_left : OR6Q1 Closest_right : OR9I1 |
.Location : . CytoBand : q12.1 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv16867095 po_P_loss_coord : 11:11814023-118502397 po_P_loss_percent : 0.00 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : 11:58050777-58051777 CMRI:101_pbsv.DEL.1149_duplicate4; chr11:58051196-58052191 HPRC:pbsv.DEL.4354; po_B_loss_someG_coord : chr11:58050631-58051631 dbVar; 11:58051196-58052191 CMRI:2_pbsv.DEL.1100_duplicate3; 11:58051456-58052455 CMRI:89_pbsv.DEL.1079_duplicate4 |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 11:58048700-58051607 Repeat_type_left : L1PA2 Gap_left : . GC_content_left : 0.365 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 11:58051585-58052607 Repeat_type_right : L1PA2 Gap_right : . GC_content_right : 0.370 |
CHM13,HG00438,HG00621,HG00673,HG00733,HG00735[...]Samples_ID : CHM13,HG00438,HG00621,HG00673,HG00733,HG00735,HG00741,HG01071,HG01106,HG01109,HG01123,HG01175,HG01243,HG01258,HG01358,HG01361,HG01891,HG01928,HG01952,HG01978,HG02055,HG02080,HG02109,HG02145,HG02148,HG02257,HG02486,HG02559,HG02572,HG02622,HG02630,HG02717,HG02723,HG02818,HG02886,HG03098,HG03453,HG03486,HG03492,HG03516,HG03540,HG03579,NA18906,NA20129,NA21309 |
>51773841>51773839ID : >51773841>51773839 |
GGACATGAACAGACACTTCTCAAAAGAAGACATTTATGCAGCCAA[...]REF : GGACATGAACAGACACTTCTCAAAAGAAGACATTTATGCAGCCAAAAAACACATGAAAAAATGCTCATCATCACTGGCCATCAGAGAAATGCAAATCAAAACCACTATGAGATATCATCTCACACCAGTTAGAATGGCAATCATTAAAAAGTCAGGAAACAACAGGTGCTGGAGAGGATGTGGAGAAATAGGAACACTTTTACACTGTTGGTGGGACTGTAAACTAGTTCAACCATTGTGGAAGTCAGTGTGGCGATTCCTCAGGGATCTAGAACTAGAAATACCATTTGACCCAGCCATCCCATTACTGGGTATATACCCAAATGACTATAAATCATGCTGCTATAAAGACACATGCACACGTATGTTTATTGCGGCATTATTCACAATAGCAAAGACTTGGAACCAAATGTCCAACAATGATAGACTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTATGCAGCCATAAAAAATGATGAGTTCATGTCCTTTGTAGGGACATGGATGAAATTGGAAACCATCATTCTCAGTAAACTATCGCAAGAACAAAAAACCAAACACCGCATATTCTCACTCATAGGTGGGAATTGAACAATGAGATCACATGGACACAGGAAGGGGAATATCACACTCTGGGGACTGTGGTGGGGTCGGGGGAGAGGGGAGGGATAGCATTGGGAGATATACCTAATGCTAGATGACGAGTTAGTGGGTGCAGCGCACCAGCATGGCACATGTATATATATGTAACTAACCTGCACAATGTGCACATGTACCCTAAAACTTAAAGTATAATAATAATAAAAAAAAAGAAAAAAAGGAAAAAAAAAAAAAAAAGAAACTACCATCAGAGTGAACAAGCAACCTACAAAATGGGAGAAAATTTTCACAACCTACTCATCTGACAAAGGGCTAATATCCAGAATCTACAATGAACTCAAACAAATTTAGGAGAAAAAAACAAACAACCCCATCAAATAGTGGGCGAAG |
GALT : G |
60QUAL : 60 |
.FILTER : . |
AC=89; AF=1; AN=89; AT=>51773841>517738[...]INFO : AC=89; AF=1; AN=89; AT=>51773841>51773840>51773839,>51773841>51773839; LV=0; NS=45; e=58051788; s=1000; rC=LINE/L1 |
GTFORMAT : GT |
1CHM13 : 1 |
1|1HG00438 : 1|1 |
1|1HG00621 : 1|1 |
1|1HG00673 : 1|1 |
1|1HG00733 : 1|1 |
1|1HG00735 : 1|1 |
1|1HG00741 : 1|1 |
1|1HG01071 : 1|1 |
1|1HG01106 : 1|1 |
1|1HG01109 : 1|1 |
1|1HG01123 : 1|1 |
1|1HG01175 : 1|1 |
1|1HG01243 : 1|1 |
1|1HG01258 : 1|1 |
1|1HG01358 : 1|1 |
1|1HG01361 : 1|1 |
1|1HG01891 : 1|1 |
1|1HG01928 : 1|1 |
1|1HG01952 : 1|1 |
1|1HG01978 : 1|1 |
1|1HG02055 : 1|1 |
1|1HG02080 : 1|1 |
1|1HG02109 : 1|1 |
1|1HG02145 : 1|1 |
1|1HG02148 : 1|1 |
1|1HG02257 : 1|1 |
1|1HG02486 : 1|1 |
1|1HG02559 : 1|1 |
1|1HG02572 : 1|1 |
1|1HG02622 : 1|1 |
1|1HG02630 : 1|1 |
1|1HG02717 : 1|1 |
1|1HG02723 : 1|1 |
1|1HG02818 : 1|1 |
1|1HG02886 : 1|1 |
1|1HG03098 : 1|1 |
1|1HG03453 : 1|1 |
1|1HG03486 : 1|1 |
1|1HG03492 : 1|1 |
1|1HG03516 : 1|1 |
1|1HG03540 : 1|1 |
1|1HG03579 : 1|1 |
1|1NA18906 : 1|1 |
1|1NA20129 : 1|1 |
1|1NA21309 : 1|1 |
|
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 1000 |
splitAnnotation_mode : split |
OR9Q1Gene_name : OR9Q1; LOEUF_bin : 8 GnomAD_pLI : 8.3932e-04 ExAC_pLI : 8.5949e-03 HI : . TS : . DDD_HI_percent : 74.98 ACMG : . ExAC_cnvZ : 0.94132383107999 ExAC_delZ : 0.610435651793837 ExAC_dupZ : 0.778331213061086 ExAC_synZ : -0.325533579585078 ExAC_misZ : -1.25506850987698 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 219956 |
intron1-intron1Location : intron1-intron1 CytoBand : q12.1 Location2 : 5'UTR Tx : NM_001005212 Tx_version : 4 Tx_start : 58023880 Tx_end : 58181616 Exon_count : 3 Overlapped_tx_length : 1000 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 4082 Nearest_SS_type : 3' Intersect_start : 58050787 Intersect_end : 58051787 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
CHM13,HG00438,HG00621,HG00673,HG00733,HG00735[...]Samples_ID : CHM13,HG00438,HG00621,HG00673,HG00733,HG00735,HG00741,HG01071,HG01106,HG01109,HG01123,HG01175,HG01243,HG01258,HG01358,HG01361,HG01891,HG01928,HG01952,HG01978,HG02055,HG02080,HG02109,HG02145,HG02148,HG02257,HG02486,HG02559,HG02572,HG02622,HG02630,HG02717,HG02723,HG02818,HG02886,HG03098,HG03453,HG03486,HG03492,HG03516,HG03540,HG03579,NA18906,NA20129,NA21309 |
>51773841>51773839ID : >51773841>51773839 |
GGACATGAACAGACACTTCTCAAAAGAAGACATTTATGCAGCCAA[...]REF : GGACATGAACAGACACTTCTCAAAAGAAGACATTTATGCAGCCAAAAAACACATGAAAAAATGCTCATCATCACTGGCCATCAGAGAAATGCAAATCAAAACCACTATGAGATATCATCTCACACCAGTTAGAATGGCAATCATTAAAAAGTCAGGAAACAACAGGTGCTGGAGAGGATGTGGAGAAATAGGAACACTTTTACACTGTTGGTGGGACTGTAAACTAGTTCAACCATTGTGGAAGTCAGTGTGGCGATTCCTCAGGGATCTAGAACTAGAAATACCATTTGACCCAGCCATCCCATTACTGGGTATATACCCAAATGACTATAAATCATGCTGCTATAAAGACACATGCACACGTATGTTTATTGCGGCATTATTCACAATAGCAAAGACTTGGAACCAAATGTCCAACAATGATAGACTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTATGCAGCCATAAAAAATGATGAGTTCATGTCCTTTGTAGGGACATGGATGAAATTGGAAACCATCATTCTCAGTAAACTATCGCAAGAACAAAAAACCAAACACCGCATATTCTCACTCATAGGTGGGAATTGAACAATGAGATCACATGGACACAGGAAGGGGAATATCACACTCTGGGGACTGTGGTGGGGTCGGGGGAGAGGGGAGGGATAGCATTGGGAGATATACCTAATGCTAGATGACGAGTTAGTGGGTGCAGCGCACCAGCATGGCACATGTATATATATGTAACTAACCTGCACAATGTGCACATGTACCCTAAAACTTAAAGTATAATAATAATAAAAAAAAAGAAAAAAAGGAAAAAAAAAAAAAAAAGAAACTACCATCAGAGTGAACAAGCAACCTACAAAATGGGAGAAAATTTTCACAACCTACTCATCTGACAAAGGGCTAATATCCAGAATCTACAATGAACTCAAACAAATTTAGGAGAAAAAAACAAACAACCCCATCAAATAGTGGGCGAAG |
GALT : G |
60QUAL : 60 |
.FILTER : . |
AC=89; AF=1; AN=89; AT=>51773841>517738[...]INFO : AC=89; AF=1; AN=89; AT=>51773841>51773840>51773839,>51773841>51773839; LV=0; NS=45; e=58051788; s=1000; rC=LINE/L1 |
GTFORMAT : GT |
1CHM13 : 1 |
1|1HG00438 : 1|1 |
1|1HG00621 : 1|1 |
1|1HG00673 : 1|1 |
1|1HG00733 : 1|1 |
1|1HG00735 : 1|1 |
1|1HG00741 : 1|1 |
1|1HG01071 : 1|1 |
1|1HG01106 : 1|1 |
1|1HG01109 : 1|1 |
1|1HG01123 : 1|1 |
1|1HG01175 : 1|1 |
1|1HG01243 : 1|1 |
1|1HG01258 : 1|1 |
1|1HG01358 : 1|1 |
1|1HG01361 : 1|1 |
1|1HG01891 : 1|1 |
1|1HG01928 : 1|1 |
1|1HG01952 : 1|1 |
1|1HG01978 : 1|1 |
1|1HG02055 : 1|1 |
1|1HG02080 : 1|1 |
1|1HG02109 : 1|1 |
1|1HG02145 : 1|1 |
1|1HG02148 : 1|1 |
1|1HG02257 : 1|1 |
1|1HG02486 : 1|1 |
1|1HG02559 : 1|1 |
1|1HG02572 : 1|1 |
1|1HG02622 : 1|1 |
1|1HG02630 : 1|1 |
1|1HG02717 : 1|1 |
1|1HG02723 : 1|1 |
1|1HG02818 : 1|1 |
1|1HG02886 : 1|1 |
1|1HG03098 : 1|1 |
1|1HG03453 : 1|1 |
1|1HG03486 : 1|1 |
1|1HG03492 : 1|1 |
1|1HG03516 : 1|1 |
1|1HG03540 : 1|1 |
1|1HG03579 : 1|1 |
1|1NA18906 : 1|1 |
1|1NA20129 : 1|1 |
1|1NA21309 : 1|1 |
|
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 1000 |
splitAnnotation_mode : split |
LOC124902674Gene_name : LOC124902674; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
intron1-intron1Location : intron1-intron1 CytoBand : q12.1 Location2 : UTR Tx : XR_007062672 Tx_version : 1 Tx_start : 58047137 Tx_end : 58057935 Exon_count : 2 Overlapped_tx_length : 1000 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 3240 Nearest_SS_type : 3' Intersect_start : 58050787 Intersect_end : 58051787 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
CHM13,HG00438,HG00621,HG00673,HG00733,HG00735[...]Samples_ID : CHM13,HG00438,HG00621,HG00673,HG00733,HG00735,HG00741,HG01071,HG01106,HG01109,HG01123,HG01175,HG01243,HG01258,HG01358,HG01361,HG01891,HG01928,HG01952,HG01978,HG02055,HG02080,HG02109,HG02145,HG02148,HG02257,HG02486,HG02559,HG02572,HG02622,HG02630,HG02717,HG02723,HG02818,HG02886,HG03098,HG03453,HG03486,HG03492,HG03516,HG03540,HG03579,NA18906,NA20129,NA21309 |
>51773841>51773839ID : >51773841>51773839 |
GGACATGAACAGACACTTCTCAAAAGAAGACATTTATGCAGCCAA[...]REF : GGACATGAACAGACACTTCTCAAAAGAAGACATTTATGCAGCCAAAAAACACATGAAAAAATGCTCATCATCACTGGCCATCAGAGAAATGCAAATCAAAACCACTATGAGATATCATCTCACACCAGTTAGAATGGCAATCATTAAAAAGTCAGGAAACAACAGGTGCTGGAGAGGATGTGGAGAAATAGGAACACTTTTACACTGTTGGTGGGACTGTAAACTAGTTCAACCATTGTGGAAGTCAGTGTGGCGATTCCTCAGGGATCTAGAACTAGAAATACCATTTGACCCAGCCATCCCATTACTGGGTATATACCCAAATGACTATAAATCATGCTGCTATAAAGACACATGCACACGTATGTTTATTGCGGCATTATTCACAATAGCAAAGACTTGGAACCAAATGTCCAACAATGATAGACTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTATGCAGCCATAAAAAATGATGAGTTCATGTCCTTTGTAGGGACATGGATGAAATTGGAAACCATCATTCTCAGTAAACTATCGCAAGAACAAAAAACCAAACACCGCATATTCTCACTCATAGGTGGGAATTGAACAATGAGATCACATGGACACAGGAAGGGGAATATCACACTCTGGGGACTGTGGTGGGGTCGGGGGAGAGGGGAGGGATAGCATTGGGAGATATACCTAATGCTAGATGACGAGTTAGTGGGTGCAGCGCACCAGCATGGCACATGTATATATATGTAACTAACCTGCACAATGTGCACATGTACCCTAAAACTTAAAGTATAATAATAATAAAAAAAAAGAAAAAAAGGAAAAAAAAAAAAAAAAGAAACTACCATCAGAGTGAACAAGCAACCTACAAAATGGGAGAAAATTTTCACAACCTACTCATCTGACAAAGGGCTAATATCCAGAATCTACAATGAACTCAAACAAATTTAGGAGAAAAAAACAAACAACCCCATCAAATAGTGGGCGAAG |
GALT : G |
60QUAL : 60 |
.FILTER : . |
AC=89; AF=1; AN=89; AT=>51773841>517738[...]INFO : AC=89; AF=1; AN=89; AT=>51773841>51773840>51773839,>51773841>51773839; LV=0; NS=45; e=58051788; s=1000; rC=LINE/L1 |
GTFORMAT : GT |
1CHM13 : 1 |
1|1HG00438 : 1|1 |
1|1HG00621 : 1|1 |
1|1HG00673 : 1|1 |
1|1HG00733 : 1|1 |
1|1HG00735 : 1|1 |
1|1HG00741 : 1|1 |
1|1HG01071 : 1|1 |
1|1HG01106 : 1|1 |
1|1HG01109 : 1|1 |
1|1HG01123 : 1|1 |
1|1HG01175 : 1|1 |
1|1HG01243 : 1|1 |
1|1HG01258 : 1|1 |
1|1HG01358 : 1|1 |
1|1HG01361 : 1|1 |
1|1HG01891 : 1|1 |
1|1HG01928 : 1|1 |
1|1HG01952 : 1|1 |
1|1HG01978 : 1|1 |
1|1HG02055 : 1|1 |
1|1HG02080 : 1|1 |
1|1HG02109 : 1|1 |
1|1HG02145 : 1|1 |
1|1HG02148 : 1|1 |
1|1HG02257 : 1|1 |
1|1HG02486 : 1|1 |
1|1HG02559 : 1|1 |
1|1HG02572 : 1|1 |
1|1HG02622 : 1|1 |
1|1HG02630 : 1|1 |
1|1HG02717 : 1|1 |
1|1HG02723 : 1|1 |
1|1HG02818 : 1|1 |
1|1HG02886 : 1|1 |
1|1HG03098 : 1|1 |
1|1HG03453 : 1|1 |
1|1HG03486 : 1|1 |
1|1HG03492 : 1|1 |
1|1HG03516 : 1|1 |
1|1HG03540 : 1|1 |
1|1HG03579 : 1|1 |
1|1NA18906 : 1|1 |
1|1NA20129 : 1|1 |
1|1NA21309 : 1|1 |
|
3ACMG_class : 3 AnnotSV_ranking_score : 0.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2B (cf po_P_loss_source, HI and OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 3A (1 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 298 Gene_count : 1 |
fullAnnotation_mode : full |
.Location : . CytoBand : q22.12 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15136031; dbVar:nssv15148957; dbVar:nssv15146956; dbVar:nssv15145768; dbVar:nssv15148100; dbVar:nssv15132871; dbVar:nssv15131821 po_P_loss_coord : 21:7749533-37653653; 21:7817159-46670440; 21:14166335-46661014; 21:34155653-42878410; 21:34789954-46636538; 21:35543873-39993338; 21:35772178-38558509 po_P_loss_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.01; 0.01 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 21:36215733-36216025; 21:36216031-36216323 Repeat_type_left : AluSg; AluSg Gap_left : . GC_content_left : 0.505 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 21:36216031-36216323; 21:36216329-36216622 Repeat_type_right : AluSg; AluSx Gap_right : . GC_content_right : 0.480 |
CHM13,HG00438,HG00621,HG00673,HG00733,HG00735[...]Samples_ID : CHM13,HG00438,HG00621,HG00673,HG00733,HG00735,HG00741,HG01071,HG01106,HG01109,HG01123,HG01175,HG01243,HG01258,HG01358,HG01361,HG01891,HG01928,HG01952,HG01978,HG02055,HG02080,HG02109,HG02145,HG02148,HG02257,HG02486,HG02559,HG02572,HG02622,HG02630,HG02717,HG02723,HG02818,HG02886,HG03098,HG03453,HG03486,HG03492,HG03516,HG03540,HG03579,NA18906,NA20129,NA21309 |
>75745382>75745384ID : >75745382>75745384 |
ATGAGGTCAGGAGTTCAGGACCAGCCTGGCCAAGATGGTGAAACC[...]REF : ATGAGGTCAGGAGTTCAGGACCAGCCTGGCCAAGATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCGCGTGCCTGTAGTCCCAGCCACTCGGGAGGCTGAGGCAAGAGAATCGCTTGAACCAGGGAGGTGGAGGTTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGCGACAGAGCAAGACTCCATCTCAAAAAGAAAAGAAATTTGCGGCCAGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGTGGATCA |
AALT : A |
60QUAL : 60 |
.FILTER : . |
AC=89; AF=1; AN=89; AT=>75745382>757453[...]INFO : AC=89; AF=1; AN=89; AT=>75745382>75745383>75745384,>75745382>75745384; LV=0; NS=45; e=36216391; s=298; rC=SINE/Alu |
GTFORMAT : GT |
1CHM13 : 1 |
1|1HG00438 : 1|1 |
1|1HG00621 : 1|1 |
1|1HG00673 : 1|1 |
1|1HG00733 : 1|1 |
1|1HG00735 : 1|1 |
1|1HG00741 : 1|1 |
1|1HG01071 : 1|1 |
1|1HG01106 : 1|1 |
1|1HG01109 : 1|1 |
1|1HG01123 : 1|1 |
1|1HG01175 : 1|1 |
1|1HG01243 : 1|1 |
1|1HG01258 : 1|1 |
1|1HG01358 : 1|1 |
1|1HG01361 : 1|1 |
1|1HG01891 : 1|1 |
1|1HG01928 : 1|1 |
1|1HG01952 : 1|1 |
1|1HG01978 : 1|1 |
1|1HG02055 : 1|1 |
1|1HG02080 : 1|1 |
1|1HG02109 : 1|1 |
1|1HG02145 : 1|1 |
1|1HG02148 : 1|1 |
1|1HG02257 : 1|1 |
1|1HG02486 : 1|1 |
1|1HG02559 : 1|1 |
1|1HG02572 : 1|1 |
1|1HG02622 : 1|1 |
1|1HG02630 : 1|1 |
1|1HG02717 : 1|1 |
1|1HG02723 : 1|1 |
1|1HG02818 : 1|1 |
1|1HG02886 : 1|1 |
1|1HG03098 : 1|1 |
1|1HG03453 : 1|1 |
1|1HG03486 : 1|1 |
1|1HG03492 : 1|1 |
1|1HG03516 : 1|1 |
1|1HG03540 : 1|1 |
1|1HG03579 : 1|1 |
1|1NA18906 : 1|1 |
1|1NA20129 : 1|1 |
1|1NA21309 : 1|1 |
||
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 298 |
splitAnnotation_mode : split |
intron9-intron9Location : intron9-intron9 CytoBand : q22.12 Location2 : UTR Tx : XR_007067795 Tx_version : 1 Tx_start : 36156823 Tx_end : 36263632 Exon_count : 26 Overlapped_tx_length : 298 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 1536 Nearest_SS_type : 5' Intersect_start : 36216092 Intersect_end : 36216390 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
CHM13,HG00438,HG00621,HG00673,HG00733,HG00735[...]Samples_ID : CHM13,HG00438,HG00621,HG00673,HG00733,HG00735,HG00741,HG01071,HG01106,HG01109,HG01123,HG01175,HG01243,HG01258,HG01358,HG01361,HG01891,HG01928,HG01952,HG01978,HG02055,HG02080,HG02109,HG02145,HG02148,HG02257,HG02486,HG02559,HG02572,HG02622,HG02630,HG02717,HG02723,HG02818,HG02886,HG03098,HG03453,HG03486,HG03492,HG03516,HG03540,HG03579,NA18906,NA20129,NA21309 |
>75745382>75745384ID : >75745382>75745384 |
ATGAGGTCAGGAGTTCAGGACCAGCCTGGCCAAGATGGTGAAACC[...]REF : ATGAGGTCAGGAGTTCAGGACCAGCCTGGCCAAGATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCGCGTGCCTGTAGTCCCAGCCACTCGGGAGGCTGAGGCAAGAGAATCGCTTGAACCAGGGAGGTGGAGGTTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGCGACAGAGCAAGACTCCATCTCAAAAAGAAAAGAAATTTGCGGCCAGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGTGGATCA |
AALT : A |
60QUAL : 60 |
.FILTER : . |
AC=89; AF=1; AN=89; AT=>75745382>757453[...]INFO : AC=89; AF=1; AN=89; AT=>75745382>75745383>75745384,>75745382>75745384; LV=0; NS=45; e=36216391; s=298; rC=SINE/Alu |
GTFORMAT : GT |
1CHM13 : 1 |
1|1HG00438 : 1|1 |
1|1HG00621 : 1|1 |
1|1HG00673 : 1|1 |
1|1HG00733 : 1|1 |
1|1HG00735 : 1|1 |
1|1HG00741 : 1|1 |
1|1HG01071 : 1|1 |
1|1HG01106 : 1|1 |
1|1HG01109 : 1|1 |
1|1HG01123 : 1|1 |
1|1HG01175 : 1|1 |
1|1HG01243 : 1|1 |
1|1HG01258 : 1|1 |
1|1HG01358 : 1|1 |
1|1HG01361 : 1|1 |
1|1HG01891 : 1|1 |
1|1HG01928 : 1|1 |
1|1HG01952 : 1|1 |
1|1HG01978 : 1|1 |
1|1HG02055 : 1|1 |
1|1HG02080 : 1|1 |
1|1HG02109 : 1|1 |
1|1HG02145 : 1|1 |
1|1HG02148 : 1|1 |
1|1HG02257 : 1|1 |
1|1HG02486 : 1|1 |
1|1HG02559 : 1|1 |
1|1HG02572 : 1|1 |
1|1HG02622 : 1|1 |
1|1HG02630 : 1|1 |
1|1HG02717 : 1|1 |
1|1HG02723 : 1|1 |
1|1HG02818 : 1|1 |
1|1HG02886 : 1|1 |
1|1HG03098 : 1|1 |
1|1HG03453 : 1|1 |
1|1HG03486 : 1|1 |
1|1HG03492 : 1|1 |
1|1HG03516 : 1|1 |
1|1HG03540 : 1|1 |
1|1HG03579 : 1|1 |
1|1NA18906 : 1|1 |
1|1NA20129 : 1|1 |
1|1NA21309 : 1|1 |
||
3ACMG_class : 3 AnnotSV_ranking_score : 0.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2B (cf po_P_loss_source, HI and OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material. 3A (1 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 262 Gene_count : 1 |
fullAnnotation_mode : full |
.Location : . CytoBand : q13.12 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15134491; dbVar:nssv15136228 po_P_loss_coord : 19:29661859-38114723; 19:29671325-37902990 po_P_loss_percent : 0.00; 0.00 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : chr19:37747072-37747334 HPRC:pbsv.DEL.4559 po_B_loss_someG_coord : 19:37747072-37747334 CMRI:0_pbsv.DEL.736_duplicate7 |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 19:37746883-37747707 Repeat_type_left : L1MD3 Gap_left : . GC_content_left : 0.280 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 19:37746883-37747707 Repeat_type_right : L1MD3 Gap_right : . GC_content_right : 0.310 |
CHM13,HG00438,HG00621,HG00673,HG00733,HG00735[...]Samples_ID : CHM13,HG00438,HG00621,HG00673,HG00733,HG00735,HG00741,HG01071,HG01106,HG01109,HG01123,HG01175,HG01243,HG01258,HG01358,HG01361,HG01891,HG01928,HG01952,HG01978,HG02055,HG02080,HG02109,HG02145,HG02148,HG02257,HG02486,HG02559,HG02572,HG02622,HG02630,HG02717,HG02723,HG02818,HG02886,HG03098,HG03453,HG03486,HG03492,HG03516,HG03540,HG03579,NA18906,NA20129,NA21309 |
>70628738>70628740ID : >70628738>70628740 |
TGTCTGAAGTTGAAACGGTATGGGTGGCAAAAGAAGTAATGTAAT[...]REF : TGTCTGAAGTTGAAACGGTATGGGTGGCAAAAGAAGTAATGTAATATTTGATTCTACCTTGAAGTATAAAACAAATATAAATGAGTCTACACTGATATGAGAAGAAACAAATATGTCTTATAGAAGAATTCTATCTGAAGTTGAAACGGTATGGGTGGCAAAAGAAGTAATGTAATATTTGATTCTACCTTGAAGTATAAAACAAATATAAATGAGTCTACACTGATATGAGAAGAAACAAATATGTCTTATAGAAGAATTCT |
TALT : T |
60QUAL : 60 |
.FILTER : . |
AC=89; AF=1; AN=89; AT=>70628738>706287[...]INFO : AC=89; AF=1; AN=89; AT=>70628738>70628739>70628740,>70628738>70628740; CONFLICT=HG01978; LV=0; NS=45; e=37747464; s=262; rC=LINE/L1 |
GTFORMAT : GT |
1CHM13 : 1 |
1|1HG00438 : 1|1 |
1|1HG00621 : 1|1 |
1|1HG00673 : 1|1 |
1|1HG00733 : 1|1 |
1|1HG00735 : 1|1 |
1|1HG00741 : 1|1 |
1|1HG01071 : 1|1 |
1|1HG01106 : 1|1 |
1|1HG01109 : 1|1 |
1|1HG01123 : 1|1 |
1|1HG01175 : 1|1 |
1|1HG01243 : 1|1 |
1|1HG01258 : 1|1 |
1|1HG01358 : 1|1 |
1|1HG01361 : 1|1 |
1|1HG01891 : 1|1 |
1|1HG01928 : 1|1 |
1|1HG01952 : 1|1 |
1|1HG01978 : 1|1 |
1|1HG02055 : 1|1 |
1|1HG02080 : 1|1 |
1|1HG02109 : 1|1 |
1|1HG02145 : 1|1 |
1|1HG02148 : 1|1 |
1|1HG02257 : 1|1 |
1|1HG02486 : 1|1 |
1|1HG02559 : 1|1 |
1|1HG02572 : 1|1 |
1|1HG02622 : 1|1 |
1|1HG02630 : 1|1 |
1|1HG02717 : 1|1 |
1|1HG02723 : 1|1 |
1|1HG02818 : 1|1 |
1|1HG02886 : 1|1 |
1|1HG03098 : 1|1 |
1|1HG03453 : 1|1 |
1|1HG03486 : 1|1 |
1|1HG03492 : 1|1 |
1|1HG03516 : 1|1 |
1|1HG03540 : 1|1 |
1|1HG03579 : 1|1 |
1|1NA18906 : 1|1 |
1|1NA20129 : 1|1 |
1|1NA21309 : 1|1 |
||
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 262 |
splitAnnotation_mode : split |
ZNF573Gene_name : ZNF573; LOEUF_bin : 7 GnomAD_pLI : 1.9945e-11 ExAC_pLI : 9.4300e-09 HI : . TS : . DDD_HI_percent : 87.25 ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : -0.357435839553518 ExAC_misZ : -0.657321099182888 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 126231 |
intron5-intron5Location : intron5-intron5 CytoBand : q13.12 Location2 : CDS Tx : NM_001172689 Tx_version : 2 Tx_start : 37738301 Tx_end : 37779586 Exon_count : 6 Overlapped_tx_length : 262 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 7007 Nearest_SS_type : 3' Intersect_start : 37747201 Intersect_end : 37747463 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
CHM13,HG00438,HG00621,HG00673,HG00733,HG00735[...]Samples_ID : CHM13,HG00438,HG00621,HG00673,HG00733,HG00735,HG00741,HG01071,HG01106,HG01109,HG01123,HG01175,HG01243,HG01258,HG01358,HG01361,HG01891,HG01928,HG01952,HG01978,HG02055,HG02080,HG02109,HG02145,HG02148,HG02257,HG02486,HG02559,HG02572,HG02622,HG02630,HG02717,HG02723,HG02818,HG02886,HG03098,HG03453,HG03486,HG03492,HG03516,HG03540,HG03579,NA18906,NA20129,NA21309 |
>70628738>70628740ID : >70628738>70628740 |
TGTCTGAAGTTGAAACGGTATGGGTGGCAAAAGAAGTAATGTAAT[...]REF : TGTCTGAAGTTGAAACGGTATGGGTGGCAAAAGAAGTAATGTAATATTTGATTCTACCTTGAAGTATAAAACAAATATAAATGAGTCTACACTGATATGAGAAGAAACAAATATGTCTTATAGAAGAATTCTATCTGAAGTTGAAACGGTATGGGTGGCAAAAGAAGTAATGTAATATTTGATTCTACCTTGAAGTATAAAACAAATATAAATGAGTCTACACTGATATGAGAAGAAACAAATATGTCTTATAGAAGAATTCT |
TALT : T |
60QUAL : 60 |
.FILTER : . |
AC=89; AF=1; AN=89; AT=>70628738>706287[...]INFO : AC=89; AF=1; AN=89; AT=>70628738>70628739>70628740,>70628738>70628740; CONFLICT=HG01978; LV=0; NS=45; e=37747464; s=262; rC=LINE/L1 |
GTFORMAT : GT |
1CHM13 : 1 |
1|1HG00438 : 1|1 |
1|1HG00621 : 1|1 |
1|1HG00673 : 1|1 |
1|1HG00733 : 1|1 |
1|1HG00735 : 1|1 |
1|1HG00741 : 1|1 |
1|1HG01071 : 1|1 |
1|1HG01106 : 1|1 |
1|1HG01109 : 1|1 |
1|1HG01123 : 1|1 |
1|1HG01175 : 1|1 |
1|1HG01243 : 1|1 |
1|1HG01258 : 1|1 |
1|1HG01358 : 1|1 |
1|1HG01361 : 1|1 |
1|1HG01891 : 1|1 |
1|1HG01928 : 1|1 |
1|1HG01952 : 1|1 |
1|1HG01978 : 1|1 |
1|1HG02055 : 1|1 |
1|1HG02080 : 1|1 |
1|1HG02109 : 1|1 |
1|1HG02145 : 1|1 |
1|1HG02148 : 1|1 |
1|1HG02257 : 1|1 |
1|1HG02486 : 1|1 |
1|1HG02559 : 1|1 |
1|1HG02572 : 1|1 |
1|1HG02622 : 1|1 |
1|1HG02630 : 1|1 |
1|1HG02717 : 1|1 |
1|1HG02723 : 1|1 |
1|1HG02818 : 1|1 |
1|1HG02886 : 1|1 |
1|1HG03098 : 1|1 |
1|1HG03453 : 1|1 |
1|1HG03486 : 1|1 |
1|1HG03492 : 1|1 |
1|1HG03516 : 1|1 |
1|1HG03540 : 1|1 |
1|1HG03579 : 1|1 |
1|1NA18906 : 1|1 |
1|1NA20129 : 1|1 |
1|1NA21309 : 1|1 |
|
3ACMG_class : 3 AnnotSV_ranking_score : 0.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2B (cf po_P_loss_source, HI and OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material. 3A (1 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 6113 Gene_count : 1 |
fullAnnotation_mode : full |
LINC00824Gene_name : LINC00824; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . Closest_left : LOC124902020 Closest_right : LOC124902021 |
.Location : . CytoBand : q24.21 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv18330293; dbVar:nssv15772694; dbVar:nssv15776010; dbVar:nssv16208202; dbVar:nssv15127815; dbVar:nssv15141345 po_P_loss_coord : 8:111222329-132656133; 8:122062055-130101646; 8:123108533-134253603; 8:125880571-142668610; 8:126626362-143306390; 8:127283352-132188526 po_P_loss_percent : 0.03; 0.08; 0.05; 0.04; 0.04; 0.12 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : chr8:128452907-128459020 HPRC:pbsv.DEL.8981; po_B_loss_someG_coord : 8:128452907-128459020 CMRI:0_pbsv.DEL.1595_duplicate2; chr8:128452907-128459020 dbVar |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 8:128452680-128452887; 8:128452918-128453002; 8:128453003-128459020 Repeat_type_left : MIRb; (T)n; L1HS Gap_left : . GC_content_left : 0.250 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 8:128453003-128459020 Repeat_type_right : L1HS Gap_right : . GC_content_right : 0.450 |
CHM13,HG00438,HG00621,HG00673,HG00733,HG00735[...]Samples_ID : CHM13,HG00438,HG00621,HG00673,HG00733,HG00735,HG00741,HG01071,HG01106,HG01109,HG01123,HG01175,HG01243,HG01258,HG01358,HG01361,HG01891,HG01928,HG01952,HG01978,HG02055,HG02080,HG02109,HG02145,HG02148,HG02257,HG02486,HG02559,HG02572,HG02622,HG02630,HG02717,HG02723,HG02818,HG02886,HG03098,HG03453,HG03486,HG03492,HG03516,HG03540,HG03579,NA18906,NA20129,NA21309 |
>39955489>39955486ID : >39955489>39955486 |
GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTATTCAGTCTT[...]REF : GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTATTCAGTCTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTATTATACTCTAAGTTTTAGGGTACATGTGCACATTGTGCAGGTTAGTTACATATGTATACATGTGCCATGCTGGTGCGCTGCACCCACTAATGTGTCATCTAGCATTAGGTATATCTCCCAATGCTATCCCTCCCCCCTCCCCCGACCCCACCACAGTCCCCAGAGTGTGATATTCCCCTTCCTGTGTCCATGTGATCTCATTGTTCAATTCCCACCTATGAGTGAGAATATGCGGTGTTTGGTTTTTTGTTCTTGCGATAGTTTACTGAGAATGATGGTTTCCAATTTCATCCATGTCCCTACAAAGGATATGAACTCATCATTTTTTATGGCTGCATAGTATTCCATGGTGTATATGTGCCACATTTTCTTAATCCAGTCTATCATTGTTGGACATTTGGGTTGGTTCCAAGTCTTTGCTATTGTGAATAGTGCCGCAATAAACATACGTGTGCATGTGTCTTTATAGCAGCATGATTTATACTCATTTGGGTATATACCCAGTAATGGGATGGCTGGGTCAAATGGTATTTCTAGTTCTAGATCCCTGAGGAATCGCCACACTGACTTCCACAATGGTTGAACTAGTTTACAGTCCCACCAACAGTGTAAAAGTGTTCCTATTTCTCCGCATCCTCTCCAGCACCTGTTGTTTCCTGACTTTTTAATGATTGCCATTCTAACTGGTGTGAGATGATATCTCATAGTGGTTTTGATTTGCATTTCTCTGATGGCCAGTGATGATGAGCATTTCTTCATGTGTTTTTTGGCTGCATAAATGTCTTCTTTTGAGAAGTGTCTGTTCATGTCCTTCGCCCACTTTTTGATGGGGTTGTTTGTTTTTTTCTTGTAAATTTGTTTGAGTTCATTGTAGATTCTGGATATTAGCCCTTTGTCAGATGAGTAGGTTGCAAAAATTTTCTCCCATGTTGTAGGTTGCCTGTTGACTCTGATGGTAGTTTCTTTTGCTGTGCAGAAGCTCTTTAGTTTAATTAGATCCCATTTGTCAATTTTGTCTTTTGTTGCCATTGCTTTTGGTGTTTTGGACATGAAGTCCTTGCCCACGCCTATGTCCTGAATGGTAATGCCTAGGTTTTCTTCTAGGGTTTTTATGGTTTTAGGTTTAACGTTTAAATCTTTAATCCATCTTGAATTGATTTTTGTATAAGGTGTAAGGAAGGGATCCAGTTTCAGCTTTCTACATATGGCTAGCCAGTTTTCCCAGCACCATTTATTAAATAGGGAATCCTTTCCCCATTGCTTGTTTTTCTCAGGTTTGTCAAAGATCAGATAGTTGTAGATATGCGGCATTATTTCTGAGGGCTCTGTTCTGTTCCATTGATCTATATCTCTGTTTTGGTACCAGTACCATGCTGTTTGGGTTACTGTAGCCTTGTAGTATAGTTTGAAGTCAGGTAGTGTGATGCCTCCAGCTTTGTTCTTTTGGCTTAGGATTGACTTGGCAATGCGGGCTCTTTTTTGGTTCCATATGAACTTTAAAGTAGTTTTTTCCAATTCTGTGAAGAAAGTCATTGGTAGCTTGATGGGGATGGCATTGAATCTGTAAATTACCTTGGGCAGTATGGCCATTTTCACGATATTGATTCTTCCTACCCATGAGCATGGAATGTTCTTCCATTTGTTTGTCTCCTCTTTTATTTCCTTGAGCAGTGGTTTGTAGTTCTCCTTGAAGAGGTCCTTCACATCCCTTGTAAGTTGGATTCCTAGGTATTTTATTCTCTTTGAAGCAATTGTGAATGGGAGTTCACCCATGATCTGGCTCTCTGTTTGTCTGTTGTTGGTGTATAAGAATGCTTGTGATTTTTGTACATTGATTTTGTATCCTGAGACTTTGCTGAAGTTGCTTATCAGCTTAAGGAGATTTTGGGCTGAGACGATGGGGTTTTCTAGATAAACAATCATGTCATCTGCAAACAGGGACAATTTGACTTCCTCTTTTCCTAATTGAATACCCTTTATTTCCTTCTCCTGCCTGATTGCCCTGGCCAGAACTTCCAACACTATGTTGAATAGGAGCGGTGAGAGAGGGCATCCCTGTCTTGTGCCGGTTTTCAAAGGGAATGCTTCCAGTTTTTGCCCATTCAGTATGATATTGGCTGTGGGTTTGTCATAGATAGCTCTTATTATTTTGAAATACGTCCCATCAATACCTAATTTATTGAGAGTTTTTAGCATGAAGGGTTGTTGAATTTTGTCAAAGGCTTTTTCTGCATCTATTGAGATAATCATGTGGTTTTTGTCTTTGGCTCTGTTTATATGCTGGATTACATTTATTGATTTGCGTATATTGAACCAGCCTTGCATCCCAGGGATGAAGCCCACTTGATCATGGTGGATAAGCTTTTTGATGTGCTGCTGGATTCGGTTTGCCAGTATTTTATTGAGGATTTTTGCATCAATGTTCATCAAGGATATTGGTCTAAAATTCTCTTTTTTGGTTGTGTCTCTGCCCGGCTTTGGTATCAGAATGATGCTGGCCTCATAAAATGAGTTAGGGAGGATTCCCTCTTTTTCTATTGATTGGAATAGTTTCAGAAGGAATGGTACCAGTTCCTCCATGTACCTCTGGTAGAATTCGGCTGTGAATCCATCTGGTCCTGGACTCTTTTTGGTTGGTAAACTATTGATTATTGCCACAATTTCAGAGCCTGTTATTGGTCTATTCAGAGATTCAACTTCTTCCTGGTTTAGTCTTGGGAGAGTGTATGTGTCGAGGAATGTATCCATTTCTTCTAGATTTTCTAGTTTATTTGCGTAGAGGTGTTTGTAGTATTCTCTGATGGTAGTTTGTATTTCTGTGGGATCGGTGGTGATATCCCCTTTATCATTTTTTATTGTGTCTATTTGATTCTTCTCTCTCTTTTTCTTTATTAGTCTTGCTAGCGGTCTATCAATTTTGTTGATCCTTTCAAAAAACCAGCTCCTGGATTCATTGATTTTTTGAAGGGTTTTTTGTGTCTCTATTTCCTTCAGTTCTGCTCTGATTTTAGTTATTTCTTGCCTTCTGCTAGCTTTTGAATGTGTTTGCTCTTGCTTTTCTAGTTCTTTTAATTGTGATGTTAGGGTGTCAATTTTGGATCTTTCCTGCTTTCTCTTGTAGGCATTTAGTGCTATAAATTTCCCTCTACACACTGCTTTGAATGCGTCCCAGAGATTCTGGTATGTGGTGTCTTTGTTCTCGTTGGTTTCAAAGAACATCTTTATTTCTGCCTTCATTTCGTTATGTACCCAGTAGTCATTCAGGAGCAGGTTGTTCAGTTTCCATGTAGTTGAGCGGCTTTGAGTGAGATTCTTAATCCTGAGTTCTAGTTTGATTGCACTGTGGTCTGAGAGATAGTTTGTTATAATTTCTGTTCTTTTACATTTGCTGAGGAGAGCTTTACTTCCAACTATGTGGTCAATTTTGGAATAGGTGTGGTGTGGTGCTGAAAAAAATGTATATTCTGTTGATTTGGGGTGGAGAGTTCTGTAGATGTCTATTAGGTCTGCTTGGTGCAGAGCTGAGTTCAATTCCTGGGTATCCTTGTTGACTTTCTGTCTCGTTGATCTGTCTAATGTTGACAGTGGGGTGTTAAAGTCTCCCATTATTAATGTGTGGGAGTCTAAGTCTCTTTGTAGGTCACTGAGGACTTGCTTTATGAATCTGGGTGCTCCTGTATTGGGTGCATAAATATTTAGGATAGTTAGCTCCTCTTGTTGAATTGATCCCTTTACCATTATGTAATGGCCTTCTTTGTCTCTTTTGATCTTTGTTGGTTTAAAGTCTGTTTTATCAGAGACTAGGATTGCAACCCCTGCCTTTTTTTGTTTTCCATTGGCTTGGTAGATCTTCCTCCATCCTTTTATTTTGAGCCTATGTGTGTCTCTGCACGTGAGATGGGTTTCCTGAATACAGCACACTGATGGGTCTTGACTCTTTATCCAACTTGCCAGTCTGTGTCTTTTAATTGCAGAATTTAGTCCATTTATATTTAAAGTTAATATTGTTATGTGTGAATTTGATCCTGTCATTATGATGTTAGCTGGTGATTTTGCTCATTAGTTGATGCAGTTTCTTCCTAGTCTCGATGGTCTTTACATTTTGGCATGATTTTGCAGCGGCTGGTACCAGTTGTTCCTTTCCATGTTTAGCGCTTCCTTCAGGAGCTCTTTTAGGGCAGGCCTGGTGGTGACAAAATCTCTCAACATTTGCTTGTCTATAAAGTATTTTATTTCTCCTTCACTTATGAAGCTTAGTTTGGCTGGATATGAAATTCTGGGTTGAAAATTCTTTTCTTTAAGAATGTTGAATATTGGCCCCCACTCTCTTCTGGCTTGTAGGGTTTCTGCCGAGAGATCCGCTGTTAGTCTGATGGGCTTTCCTTTGAGGGTAACCCGACCTTTCTCTCTGGCTGCCCTTAACATTTTTTCCTTCATTTCAACTTTGGTGAATCTGACAATTATGTGTCTTGGAGTTGCTCTTCTCGAGGAGTATCTTTGTGGCGTTCTCTGTATTTCCTGAATCTGAACGTTGGCCTGCCTTGCTAGATTGGGGAAGTTCTCCTGGATAATATCCTGCAGAGTGTTTTCCAACTTGGTTCCATTCTCCACATCACTTTCAGGTACACCAATCAGACGTAGATTTGGTCTTTTCACATAGTCCCATATTTCTTGGAGGCTTTGCTCATTTCTTTTTATTCTTTTTTCTCTAAACTTCCCTTCTCGCTTCATTTCATTCATTTCATCTTCCATTGCTGATACCCTTTCTTCCAGTTGATCGCATCGGCTCCTGAGGCTTCTGCATTCTTCACGTAGTTCTCGAGCCTTGGTTTTCAGCTCCATCAGCTCCTTTAAGCACTTCTCTGTATTGGTTATTCTAGTTATACATTCTTCTAAATTTTTTTCAAAGTTTTCAACTTCTTTGCCTTTGGTTTGAATGTCCTCCCGTAGCTCAGAGTAATTTGATCGTCTGAAGCCTTCTTCTCTCAGCTCGTCAAAATCATTCTCCATCCAGCTTTGTTCTGTTGCTGGTGAGGAACTGCGTTCCTTTGGAGGAGGAGAGGCGCTCTGCGTTTTAGAGTTTCCAGTTTTTCTGTTCTGTTTTTTCCCCATCTTTGTGGTTTTATCTACTTTTGGTCTTTGATGATGGTGATGTACAGATGGGTTTTCGGTGTAGATGTCCTTTCTGGTTGTTAGTTTTCCTTCTAACAGACAGGACCCTCAGCTGCAGGTCTGTTGGAATACCCTGCCGTGTGAGGTGTCAGTGTGCCCCTGCTGGGGGGTGCCTCCCAGTTAGGCTGCTCGGGGGTCAGGAGTCAGGGACCCACTTGAGGAGGCAGTCTGCCCGTTCTCAGATCTCCAGCTGCCTCCTGGGAGAACCACTGCTCTCTTCAAAGCTGTCAGACAGGGACACTTAAGTCTGCAGAGGTTACTGCTGTCTTTTTGTTTGTCTGTGCCCTGCCCCCAGAGGTGGAGCCTACAGAGGCAGGCAGGCCTCCTTGAGCTGTGGTGGGCTCCACCCAGTTCGAGCTTCCCGGCTGCTTTGTTTACCTAAGCAAGCCTGGGCAATGGCGGGCGCCCCTCCCCCAGCCTCGTTGCCGCCTTGCAGTTTGATCTCAGACTGCTGTGCTAGCAATCAGCGAGATTCCGTGGGCGTAGGACCCTCCGAGCCAGGTGTGGGATATAGTCTCATGGTGCGCCGTTTCTTAAGCCGGTCTGAAAAGCGCAATATTCGGGTGGGAGTGACCCGATTTTCCAGGTGCGTCCGTCACCCCTTTCTTTGACTCGGAAAGGGAACTCCCTGACCCCTTGCGCTTCCCAGGTGAGGCAATGCCTCGCCCTGCTTCGGCTCGCGCACGGTGCGCACACACACTGGCCTGCGCCCACTGTCTGGCACTCCCTAGTGAGATGAACCCGGTACCTCAGATGGAAATGCAGAAATCACCGTCTTCTGCGTCGCTCACGCTGGGAGCTGTAGACCGGAGCTGTTCCTATTCGGCCATCTTGGCTCCTCCCTCCCAGCTTGTG |
GALT : G |
60QUAL : 60 |
.FILTER : . |
AC=89; AF=1; AN=89; AT=>39955489>399554[...]INFO : AC=89; AF=1; AN=89; AT=>39955489>39955488>39955487>39955486,>39955489>39955486; LV=0; NS=45; e=128459030; s=6113; rC=LINE/L1 |
GTFORMAT : GT |
1CHM13 : 1 |
1|1HG00438 : 1|1 |
1|1HG00621 : 1|1 |
1|1HG00673 : 1|1 |
1|1HG00733 : 1|1 |
1|1HG00735 : 1|1 |
1|1HG00741 : 1|1 |
1|1HG01071 : 1|1 |
1|1HG01106 : 1|1 |
1|1HG01109 : 1|1 |
1|1HG01123 : 1|1 |
1|1HG01175 : 1|1 |
1|1HG01243 : 1|1 |
1|1HG01258 : 1|1 |
1|1HG01358 : 1|1 |
1|1HG01361 : 1|1 |
1|1HG01891 : 1|1 |
1|1HG01928 : 1|1 |
1|1HG01952 : 1|1 |
1|1HG01978 : 1|1 |
1|1HG02055 : 1|1 |
1|1HG02080 : 1|1 |
1|1HG02109 : 1|1 |
1|1HG02145 : 1|1 |
1|1HG02148 : 1|1 |
1|1HG02257 : 1|1 |
1|1HG02486 : 1|1 |
1|1HG02559 : 1|1 |
1|1HG02572 : 1|1 |
1|1HG02622 : 1|1 |
1|1HG02630 : 1|1 |
1|1HG02717 : 1|1 |
1|1HG02723 : 1|1 |
1|1HG02818 : 1|1 |
1|1HG02886 : 1|1 |
1|1HG03098 : 1|1 |
1|1HG03453 : 1|1 |
1|1HG03486 : 1|1 |
1|1HG03492 : 1|1 |
1|1HG03516 : 1|1 |
1|1HG03540 : 1|1 |
1|1HG03579 : 1|1 |
1|1NA18906 : 1|1 |
1|1NA20129 : 1|1 |
1|1NA21309 : 1|1 |
|
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 6113 |
splitAnnotation_mode : split |
LINC00824Gene_name : LINC00824; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 101927774 |
intron2-intron2Location : intron2-intron2 CytoBand : q24.21 Location2 : UTR Tx : NR_121672 Tx_version : 1 Tx_start : 128405268 Tx_end : 128564679 Exon_count : 8 Overlapped_tx_length : 6113 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 24532 Nearest_SS_type : 3' Intersect_start : 128452916 Intersect_end : 128459029 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
CHM13,HG00438,HG00621,HG00673,HG00733,HG00735[...]Samples_ID : CHM13,HG00438,HG00621,HG00673,HG00733,HG00735,HG00741,HG01071,HG01106,HG01109,HG01123,HG01175,HG01243,HG01258,HG01358,HG01361,HG01891,HG01928,HG01952,HG01978,HG02055,HG02080,HG02109,HG02145,HG02148,HG02257,HG02486,HG02559,HG02572,HG02622,HG02630,HG02717,HG02723,HG02818,HG02886,HG03098,HG03453,HG03486,HG03492,HG03516,HG03540,HG03579,NA18906,NA20129,NA21309 |
>39955489>39955486ID : >39955489>39955486 |
GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTATTCAGTCTT[...]REF : GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTATTCAGTCTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTATTATACTCTAAGTTTTAGGGTACATGTGCACATTGTGCAGGTTAGTTACATATGTATACATGTGCCATGCTGGTGCGCTGCACCCACTAATGTGTCATCTAGCATTAGGTATATCTCCCAATGCTATCCCTCCCCCCTCCCCCGACCCCACCACAGTCCCCAGAGTGTGATATTCCCCTTCCTGTGTCCATGTGATCTCATTGTTCAATTCCCACCTATGAGTGAGAATATGCGGTGTTTGGTTTTTTGTTCTTGCGATAGTTTACTGAGAATGATGGTTTCCAATTTCATCCATGTCCCTACAAAGGATATGAACTCATCATTTTTTATGGCTGCATAGTATTCCATGGTGTATATGTGCCACATTTTCTTAATCCAGTCTATCATTGTTGGACATTTGGGTTGGTTCCAAGTCTTTGCTATTGTGAATAGTGCCGCAATAAACATACGTGTGCATGTGTCTTTATAGCAGCATGATTTATACTCATTTGGGTATATACCCAGTAATGGGATGGCTGGGTCAAATGGTATTTCTAGTTCTAGATCCCTGAGGAATCGCCACACTGACTTCCACAATGGTTGAACTAGTTTACAGTCCCACCAACAGTGTAAAAGTGTTCCTATTTCTCCGCATCCTCTCCAGCACCTGTTGTTTCCTGACTTTTTAATGATTGCCATTCTAACTGGTGTGAGATGATATCTCATAGTGGTTTTGATTTGCATTTCTCTGATGGCCAGTGATGATGAGCATTTCTTCATGTGTTTTTTGGCTGCATAAATGTCTTCTTTTGAGAAGTGTCTGTTCATGTCCTTCGCCCACTTTTTGATGGGGTTGTTTGTTTTTTTCTTGTAAATTTGTTTGAGTTCATTGTAGATTCTGGATATTAGCCCTTTGTCAGATGAGTAGGTTGCAAAAATTTTCTCCCATGTTGTAGGTTGCCTGTTGACTCTGATGGTAGTTTCTTTTGCTGTGCAGAAGCTCTTTAGTTTAATTAGATCCCATTTGTCAATTTTGTCTTTTGTTGCCATTGCTTTTGGTGTTTTGGACATGAAGTCCTTGCCCACGCCTATGTCCTGAATGGTAATGCCTAGGTTTTCTTCTAGGGTTTTTATGGTTTTAGGTTTAACGTTTAAATCTTTAATCCATCTTGAATTGATTTTTGTATAAGGTGTAAGGAAGGGATCCAGTTTCAGCTTTCTACATATGGCTAGCCAGTTTTCCCAGCACCATTTATTAAATAGGGAATCCTTTCCCCATTGCTTGTTTTTCTCAGGTTTGTCAAAGATCAGATAGTTGTAGATATGCGGCATTATTTCTGAGGGCTCTGTTCTGTTCCATTGATCTATATCTCTGTTTTGGTACCAGTACCATGCTGTTTGGGTTACTGTAGCCTTGTAGTATAGTTTGAAGTCAGGTAGTGTGATGCCTCCAGCTTTGTTCTTTTGGCTTAGGATTGACTTGGCAATGCGGGCTCTTTTTTGGTTCCATATGAACTTTAAAGTAGTTTTTTCCAATTCTGTGAAGAAAGTCATTGGTAGCTTGATGGGGATGGCATTGAATCTGTAAATTACCTTGGGCAGTATGGCCATTTTCACGATATTGATTCTTCCTACCCATGAGCATGGAATGTTCTTCCATTTGTTTGTCTCCTCTTTTATTTCCTTGAGCAGTGGTTTGTAGTTCTCCTTGAAGAGGTCCTTCACATCCCTTGTAAGTTGGATTCCTAGGTATTTTATTCTCTTTGAAGCAATTGTGAATGGGAGTTCACCCATGATCTGGCTCTCTGTTTGTCTGTTGTTGGTGTATAAGAATGCTTGTGATTTTTGTACATTGATTTTGTATCCTGAGACTTTGCTGAAGTTGCTTATCAGCTTAAGGAGATTTTGGGCTGAGACGATGGGGTTTTCTAGATAAACAATCATGTCATCTGCAAACAGGGACAATTTGACTTCCTCTTTTCCTAATTGAATACCCTTTATTTCCTTCTCCTGCCTGATTGCCCTGGCCAGAACTTCCAACACTATGTTGAATAGGAGCGGTGAGAGAGGGCATCCCTGTCTTGTGCCGGTTTTCAAAGGGAATGCTTCCAGTTTTTGCCCATTCAGTATGATATTGGCTGTGGGTTTGTCATAGATAGCTCTTATTATTTTGAAATACGTCCCATCAATACCTAATTTATTGAGAGTTTTTAGCATGAAGGGTTGTTGAATTTTGTCAAAGGCTTTTTCTGCATCTATTGAGATAATCATGTGGTTTTTGTCTTTGGCTCTGTTTATATGCTGGATTACATTTATTGATTTGCGTATATTGAACCAGCCTTGCATCCCAGGGATGAAGCCCACTTGATCATGGTGGATAAGCTTTTTGATGTGCTGCTGGATTCGGTTTGCCAGTATTTTATTGAGGATTTTTGCATCAATGTTCATCAAGGATATTGGTCTAAAATTCTCTTTTTTGGTTGTGTCTCTGCCCGGCTTTGGTATCAGAATGATGCTGGCCTCATAAAATGAGTTAGGGAGGATTCCCTCTTTTTCTATTGATTGGAATAGTTTCAGAAGGAATGGTACCAGTTCCTCCATGTACCTCTGGTAGAATTCGGCTGTGAATCCATCTGGTCCTGGACTCTTTTTGGTTGGTAAACTATTGATTATTGCCACAATTTCAGAGCCTGTTATTGGTCTATTCAGAGATTCAACTTCTTCCTGGTTTAGTCTTGGGAGAGTGTATGTGTCGAGGAATGTATCCATTTCTTCTAGATTTTCTAGTTTATTTGCGTAGAGGTGTTTGTAGTATTCTCTGATGGTAGTTTGTATTTCTGTGGGATCGGTGGTGATATCCCCTTTATCATTTTTTATTGTGTCTATTTGATTCTTCTCTCTCTTTTTCTTTATTAGTCTTGCTAGCGGTCTATCAATTTTGTTGATCCTTTCAAAAAACCAGCTCCTGGATTCATTGATTTTTTGAAGGGTTTTTTGTGTCTCTATTTCCTTCAGTTCTGCTCTGATTTTAGTTATTTCTTGCCTTCTGCTAGCTTTTGAATGTGTTTGCTCTTGCTTTTCTAGTTCTTTTAATTGTGATGTTAGGGTGTCAATTTTGGATCTTTCCTGCTTTCTCTTGTAGGCATTTAGTGCTATAAATTTCCCTCTACACACTGCTTTGAATGCGTCCCAGAGATTCTGGTATGTGGTGTCTTTGTTCTCGTTGGTTTCAAAGAACATCTTTATTTCTGCCTTCATTTCGTTATGTACCCAGTAGTCATTCAGGAGCAGGTTGTTCAGTTTCCATGTAGTTGAGCGGCTTTGAGTGAGATTCTTAATCCTGAGTTCTAGTTTGATTGCACTGTGGTCTGAGAGATAGTTTGTTATAATTTCTGTTCTTTTACATTTGCTGAGGAGAGCTTTACTTCCAACTATGTGGTCAATTTTGGAATAGGTGTGGTGTGGTGCTGAAAAAAATGTATATTCTGTTGATTTGGGGTGGAGAGTTCTGTAGATGTCTATTAGGTCTGCTTGGTGCAGAGCTGAGTTCAATTCCTGGGTATCCTTGTTGACTTTCTGTCTCGTTGATCTGTCTAATGTTGACAGTGGGGTGTTAAAGTCTCCCATTATTAATGTGTGGGAGTCTAAGTCTCTTTGTAGGTCACTGAGGACTTGCTTTATGAATCTGGGTGCTCCTGTATTGGGTGCATAAATATTTAGGATAGTTAGCTCCTCTTGTTGAATTGATCCCTTTACCATTATGTAATGGCCTTCTTTGTCTCTTTTGATCTTTGTTGGTTTAAAGTCTGTTTTATCAGAGACTAGGATTGCAACCCCTGCCTTTTTTTGTTTTCCATTGGCTTGGTAGATCTTCCTCCATCCTTTTATTTTGAGCCTATGTGTGTCTCTGCACGTGAGATGGGTTTCCTGAATACAGCACACTGATGGGTCTTGACTCTTTATCCAACTTGCCAGTCTGTGTCTTTTAATTGCAGAATTTAGTCCATTTATATTTAAAGTTAATATTGTTATGTGTGAATTTGATCCTGTCATTATGATGTTAGCTGGTGATTTTGCTCATTAGTTGATGCAGTTTCTTCCTAGTCTCGATGGTCTTTACATTTTGGCATGATTTTGCAGCGGCTGGTACCAGTTGTTCCTTTCCATGTTTAGCGCTTCCTTCAGGAGCTCTTTTAGGGCAGGCCTGGTGGTGACAAAATCTCTCAACATTTGCTTGTCTATAAAGTATTTTATTTCTCCTTCACTTATGAAGCTTAGTTTGGCTGGATATGAAATTCTGGGTTGAAAATTCTTTTCTTTAAGAATGTTGAATATTGGCCCCCACTCTCTTCTGGCTTGTAGGGTTTCTGCCGAGAGATCCGCTGTTAGTCTGATGGGCTTTCCTTTGAGGGTAACCCGACCTTTCTCTCTGGCTGCCCTTAACATTTTTTCCTTCATTTCAACTTTGGTGAATCTGACAATTATGTGTCTTGGAGTTGCTCTTCTCGAGGAGTATCTTTGTGGCGTTCTCTGTATTTCCTGAATCTGAACGTTGGCCTGCCTTGCTAGATTGGGGAAGTTCTCCTGGATAATATCCTGCAGAGTGTTTTCCAACTTGGTTCCATTCTCCACATCACTTTCAGGTACACCAATCAGACGTAGATTTGGTCTTTTCACATAGTCCCATATTTCTTGGAGGCTTTGCTCATTTCTTTTTATTCTTTTTTCTCTAAACTTCCCTTCTCGCTTCATTTCATTCATTTCATCTTCCATTGCTGATACCCTTTCTTCCAGTTGATCGCATCGGCTCCTGAGGCTTCTGCATTCTTCACGTAGTTCTCGAGCCTTGGTTTTCAGCTCCATCAGCTCCTTTAAGCACTTCTCTGTATTGGTTATTCTAGTTATACATTCTTCTAAATTTTTTTCAAAGTTTTCAACTTCTTTGCCTTTGGTTTGAATGTCCTCCCGTAGCTCAGAGTAATTTGATCGTCTGAAGCCTTCTTCTCTCAGCTCGTCAAAATCATTCTCCATCCAGCTTTGTTCTGTTGCTGGTGAGGAACTGCGTTCCTTTGGAGGAGGAGAGGCGCTCTGCGTTTTAGAGTTTCCAGTTTTTCTGTTCTGTTTTTTCCCCATCTTTGTGGTTTTATCTACTTTTGGTCTTTGATGATGGTGATGTACAGATGGGTTTTCGGTGTAGATGTCCTTTCTGGTTGTTAGTTTTCCTTCTAACAGACAGGACCCTCAGCTGCAGGTCTGTTGGAATACCCTGCCGTGTGAGGTGTCAGTGTGCCCCTGCTGGGGGGTGCCTCCCAGTTAGGCTGCTCGGGGGTCAGGAGTCAGGGACCCACTTGAGGAGGCAGTCTGCCCGTTCTCAGATCTCCAGCTGCCTCCTGGGAGAACCACTGCTCTCTTCAAAGCTGTCAGACAGGGACACTTAAGTCTGCAGAGGTTACTGCTGTCTTTTTGTTTGTCTGTGCCCTGCCCCCAGAGGTGGAGCCTACAGAGGCAGGCAGGCCTCCTTGAGCTGTGGTGGGCTCCACCCAGTTCGAGCTTCCCGGCTGCTTTGTTTACCTAAGCAAGCCTGGGCAATGGCGGGCGCCCCTCCCCCAGCCTCGTTGCCGCCTTGCAGTTTGATCTCAGACTGCTGTGCTAGCAATCAGCGAGATTCCGTGGGCGTAGGACCCTCCGAGCCAGGTGTGGGATATAGTCTCATGGTGCGCCGTTTCTTAAGCCGGTCTGAAAAGCGCAATATTCGGGTGGGAGTGACCCGATTTTCCAGGTGCGTCCGTCACCCCTTTCTTTGACTCGGAAAGGGAACTCCCTGACCCCTTGCGCTTCCCAGGTGAGGCAATGCCTCGCCCTGCTTCGGCTCGCGCACGGTGCGCACACACACTGGCCTGCGCCCACTGTCTGGCACTCCCTAGTGAGATGAACCCGGTACCTCAGATGGAAATGCAGAAATCACCGTCTTCTGCGTCGCTCACGCTGGGAGCTGTAGACCGGAGCTGTTCCTATTCGGCCATCTTGGCTCCTCCCTCCCAGCTTGTG |
GALT : G |
60QUAL : 60 |
.FILTER : . |
AC=89; AF=1; AN=89; AT=>39955489>399554[...]INFO : AC=89; AF=1; AN=89; AT=>39955489>39955488>39955487>39955486,>39955489>39955486; LV=0; NS=45; e=128459030; s=6113; rC=LINE/L1 |
GTFORMAT : GT |
1CHM13 : 1 |
1|1HG00438 : 1|1 |
1|1HG00621 : 1|1 |
1|1HG00673 : 1|1 |
1|1HG00733 : 1|1 |
1|1HG00735 : 1|1 |
1|1HG00741 : 1|1 |
1|1HG01071 : 1|1 |
1|1HG01106 : 1|1 |
1|1HG01109 : 1|1 |
1|1HG01123 : 1|1 |
1|1HG01175 : 1|1 |
1|1HG01243 : 1|1 |
1|1HG01258 : 1|1 |
1|1HG01358 : 1|1 |
1|1HG01361 : 1|1 |
1|1HG01891 : 1|1 |
1|1HG01928 : 1|1 |
1|1HG01952 : 1|1 |
1|1HG01978 : 1|1 |
1|1HG02055 : 1|1 |
1|1HG02080 : 1|1 |
1|1HG02109 : 1|1 |
1|1HG02145 : 1|1 |
1|1HG02148 : 1|1 |
1|1HG02257 : 1|1 |
1|1HG02486 : 1|1 |
1|1HG02559 : 1|1 |
1|1HG02572 : 1|1 |
1|1HG02622 : 1|1 |
1|1HG02630 : 1|1 |
1|1HG02717 : 1|1 |
1|1HG02723 : 1|1 |
1|1HG02818 : 1|1 |
1|1HG02886 : 1|1 |
1|1HG03098 : 1|1 |
1|1HG03453 : 1|1 |
1|1HG03486 : 1|1 |
1|1HG03492 : 1|1 |
1|1HG03516 : 1|1 |
1|1HG03540 : 1|1 |
1|1HG03579 : 1|1 |
1|1NA18906 : 1|1 |
1|1NA20129 : 1|1 |
1|1NA21309 : 1|1 |
|
3ACMG_class : 3 AnnotSV_ranking_score : 0.15 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2H (RBPMS, +0.15): Two or more HI predictors suggest that AT LEAST ONE gene in the interval is HI (gnomAD pLI >=0.9 and DECIPHER HI index <=10%) 2B (cf po_P_loss_source, HI and OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material. 3A (1 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 304 Gene_count : 1 |
fullAnnotation_mode : full |
RBPMSGene_name : RBPMS; LOEUF_bin : 1 GnomAD_pLI : 9.7173e-01 ExAC_pLI : 7.8317e-01 HI : . TS : . DDD_HI_percent : 8.27 ExAC_cnvZ : 1.01162985861069 ExAC_delZ : 0.890125306525941 ExAC_dupZ : 0.757107035545286 ExAC_synZ : 0.212941066706018 ExAC_misZ : 2.39849992190521 Closest_left : LOC124901929 Closest_right : GTF2E2 |
.Location : . CytoBand : p12 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
GSR (morbid/RE=EA_enhancer); TEX15 (morbid/RE[...]RE_gene : GSR (morbid/RE=EA_enhancer); TEX15 (morbid/RE=EA_enhancer); GTF2E2 (morbid/RE=EA_enhancer); |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15125508; dbVar:nssv15146037; dbVar:nssv15121705; dbVar:nssv15119973; dbVar:nssv15134674; dbVar:nssv18330735; dbVar:nssv15135095; dbVar:nssv15154573 po_P_loss_coord : 8:15235843-32389216; 8:18972997-33619264; 8:24910365-31196357; 8:24910365-31210737; 8:25171104-31750600; 8:26951453-38488865; 8:29362098-40231708; 8:30477609-33912552 po_P_loss_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.01 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : 8:30534760-30535064 CMRI:0_pbsv.DEL.609_duplicate2; chr8:30534760-30535064 dbVar; chr8:30534761-30535064 dbVar po_B_loss_someG_coord : chr8:30534475-30535067 gnomAD-SV_v3_DEL_chr8_44ab6ae7; chr8:30534760-30535064 HPRC:pbsv.DEL.3573; 8:30534761-30535064 1000g |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 8:30534774-30535060 Repeat_type_left : AluYb8 Gap_left : . GC_content_left : 0.420 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 8:30534774-30535060 Repeat_type_right : AluYb8 Gap_right : . GC_content_right : 0.380 |
CHM13,HG00438,HG00621,HG00673,HG00733,HG00735[...]Samples_ID : CHM13,HG00438,HG00621,HG00673,HG00733,HG00735,HG00741,HG01071,HG01106,HG01109,HG01123,HG01175,HG01243,HG01258,HG01358,HG01361,HG01891,HG01928,HG01952,HG01978,HG02055,HG02080,HG02109,HG02145,HG02148,HG02257,HG02486,HG02559,HG02572,HG02622,HG02630,HG02717,HG02723,HG02818,HG02886,HG03098,HG03453,HG03486,HG03492,HG03516,HG03540,HG03579,NA18906,NA20129,NA21309 |
>37934001>37933999ID : >37934001>37933999 |
TGATAACTACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAG[...]REF : TGATAACTACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAAAAAATACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACT |
TALT : T |
60QUAL : 60 |
.FILTER : . |
AC=89; AF=1; AN=89; AT=>37934001>379340[...]INFO : AC=89; AF=1; AN=89; AT=>37934001>37934000>37933999,>37934001>37933999; LV=0; NS=45; e=30535070; s=304; rC=SINE/Alu |
GTFORMAT : GT |
1CHM13 : 1 |
1|1HG00438 : 1|1 |
1|1HG00621 : 1|1 |
1|1HG00673 : 1|1 |
1|1HG00733 : 1|1 |
1|1HG00735 : 1|1 |
1|1HG00741 : 1|1 |
1|1HG01071 : 1|1 |
1|1HG01106 : 1|1 |
1|1HG01109 : 1|1 |
1|1HG01123 : 1|1 |
1|1HG01175 : 1|1 |
1|1HG01243 : 1|1 |
1|1HG01258 : 1|1 |
1|1HG01358 : 1|1 |
1|1HG01361 : 1|1 |
1|1HG01891 : 1|1 |
1|1HG01928 : 1|1 |
1|1HG01952 : 1|1 |
1|1HG01978 : 1|1 |
1|1HG02055 : 1|1 |
1|1HG02080 : 1|1 |
1|1HG02109 : 1|1 |
1|1HG02145 : 1|1 |
1|1HG02148 : 1|1 |
1|1HG02257 : 1|1 |
1|1HG02486 : 1|1 |
1|1HG02559 : 1|1 |
1|1HG02572 : 1|1 |
1|1HG02622 : 1|1 |
1|1HG02630 : 1|1 |
1|1HG02717 : 1|1 |
1|1HG02723 : 1|1 |
1|1HG02818 : 1|1 |
1|1HG02886 : 1|1 |
1|1HG03098 : 1|1 |
1|1HG03453 : 1|1 |
1|1HG03486 : 1|1 |
1|1HG03492 : 1|1 |
1|1HG03516 : 1|1 |
1|1HG03540 : 1|1 |
1|1HG03579 : 1|1 |
1|1NA18906 : 1|1 |
1|1NA20129 : 1|1 |
1|1NA21309 : 1|1 |
|
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 304 |
splitAnnotation_mode : split |
RBPMSGene_name : RBPMS; LOEUF_bin : 1 GnomAD_pLI : 9.7173e-01 ExAC_pLI : 7.8317e-01 HI : . TS : . DDD_HI_percent : 8.27 ACMG : . ExAC_cnvZ : 1.01162985861069 ExAC_delZ : 0.890125306525941 ExAC_dupZ : 0.757107035545286 ExAC_synZ : 0.212941066706018 ExAC_misZ : 2.39849992190521 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 11030 |
intron5-intron5Location : intron5-intron5 CytoBand : p12 Location2 : CDS Tx : XM_017012984 Tx_version : 2 Tx_start : 30384540 Tx_end : 30545157 Exon_count : 6 Overlapped_tx_length : 304 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 9424 Nearest_SS_type : 3' Intersect_start : 30534765 Intersect_end : 30535069 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
CHM13,HG00438,HG00621,HG00673,HG00733,HG00735[...]Samples_ID : CHM13,HG00438,HG00621,HG00673,HG00733,HG00735,HG00741,HG01071,HG01106,HG01109,HG01123,HG01175,HG01243,HG01258,HG01358,HG01361,HG01891,HG01928,HG01952,HG01978,HG02055,HG02080,HG02109,HG02145,HG02148,HG02257,HG02486,HG02559,HG02572,HG02622,HG02630,HG02717,HG02723,HG02818,HG02886,HG03098,HG03453,HG03486,HG03492,HG03516,HG03540,HG03579,NA18906,NA20129,NA21309 |
>37934001>37933999ID : >37934001>37933999 |
TGATAACTACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAG[...]REF : TGATAACTACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAAAAAATACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACT |
TALT : T |
60QUAL : 60 |
.FILTER : . |
AC=89; AF=1; AN=89; AT=>37934001>379340[...]INFO : AC=89; AF=1; AN=89; AT=>37934001>37934000>37933999,>37934001>37933999; LV=0; NS=45; e=30535070; s=304; rC=SINE/Alu |
GTFORMAT : GT |
1CHM13 : 1 |
1|1HG00438 : 1|1 |
1|1HG00621 : 1|1 |
1|1HG00673 : 1|1 |
1|1HG00733 : 1|1 |
1|1HG00735 : 1|1 |
1|1HG00741 : 1|1 |
1|1HG01071 : 1|1 |
1|1HG01106 : 1|1 |
1|1HG01109 : 1|1 |
1|1HG01123 : 1|1 |
1|1HG01175 : 1|1 |
1|1HG01243 : 1|1 |
1|1HG01258 : 1|1 |
1|1HG01358 : 1|1 |
1|1HG01361 : 1|1 |
1|1HG01891 : 1|1 |
1|1HG01928 : 1|1 |
1|1HG01952 : 1|1 |
1|1HG01978 : 1|1 |
1|1HG02055 : 1|1 |
1|1HG02080 : 1|1 |
1|1HG02109 : 1|1 |
1|1HG02145 : 1|1 |
1|1HG02148 : 1|1 |
1|1HG02257 : 1|1 |
1|1HG02486 : 1|1 |
1|1HG02559 : 1|1 |
1|1HG02572 : 1|1 |
1|1HG02622 : 1|1 |
1|1HG02630 : 1|1 |
1|1HG02717 : 1|1 |
1|1HG02723 : 1|1 |
1|1HG02818 : 1|1 |
1|1HG02886 : 1|1 |
1|1HG03098 : 1|1 |
1|1HG03453 : 1|1 |
1|1HG03486 : 1|1 |
1|1HG03492 : 1|1 |
1|1HG03516 : 1|1 |
1|1HG03540 : 1|1 |
1|1HG03579 : 1|1 |
1|1NA18906 : 1|1 |
1|1NA20129 : 1|1 |
1|1NA21309 : 1|1 |
|
3ACMG_class : 3 AnnotSV_ranking_score : 0.15 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2H (EPHA4, +0.15): Two or more HI predictors suggest that AT LEAST ONE gene in the interval is HI (gnomAD pLI >=0.9 and DECIPHER HI index <=10%) 2B (cf po_P_loss_source, HI and OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 3A (1 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 299 Gene_count : 1 |
fullAnnotation_mode : full |
EPHA4Gene_name : EPHA4; LOEUF_bin : 0 GnomAD_pLI : 1.0000e+00 ExAC_pLI : 9.9989e-01 HI : . TS : . DDD_HI_percent : 1.13 ExAC_cnvZ : 0.983574223167158 ExAC_delZ : 1.13727799129132 ExAC_dupZ : 0.637577531401268 ExAC_synZ : -0.0279108286767267 ExAC_misZ : 3.34532988891912 Closest_left : LOC107985990 Closest_right : LOC105373897 |
.Location : . CytoBand : q36.1 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15124851; dbVar:nssv15153047; dbVar:nssv15152717; dbVar:nssv17969813; dbVar:nssv15147116; dbVar:nssv17650001; dbVar:nssv15163352; dbVar:nssv15152713; dbVar:nssv15152711; dbVar:nssv15124274 po_P_loss_coord : 2:50659295-242160331; 2:216509422-226778904; 2:217948712-226585983; 2:218741815-238309062; 2:219081621-225430308; 2:219192170-226300101; 2:219744077-223353038; 2:219750022-224723053; 2:220574530-225305687; 2:221285587-222309411 po_P_loss_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.01; 0.01; 0.01; 0.03 |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVar; gnomAD-SV_v3_DEL_chr2_d8522047B_loss_source : dbVar; gnomAD-SV_v3_DEL_chr2_d8522047 B_loss_coord : chr2:148424217-233186659; chr2:221505295-221537512 B_loss_AFmax : 0.0146 po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : chr2:221505295-221537512 dbVar; 2:221523565-221523863 esv2657184 po_B_loss_someG_coord : chr2:148424217-233186659 gnomAD-SV_v3_DEL_chr2_d8522047; 2:221523564-221523863 CMRI:4_pbsv.DEL.3989 |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 2:221523293-221523586; 2:221523605-221523885 Repeat_type_left : AluSp; AluSz Gap_left : . GC_content_left : 0.520 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 2:221523605-221523885; 2:221523894-221523931 Repeat_type_right : AluSz; L2c Gap_right : . GC_content_right : 0.475 |
CHM13,HG01109Samples_ID : CHM13,HG01109 |
>11843673>11843675ID : >11843673>11843675 |
CTGGCCAGAATATTTTTTAGTAACTTTTTTTGAGACAGAGCCTCC[...]REF : CTGGCCAGAATATTTTTTAGTAACTTTTTTTGAGACAGAGCCTCCCTCTGTCACCCAGGCTGGAGTGCAGTGGTGTGATCCCGGCTCACTGCAACCTCCATCTCTGAGGTTCCAGAAATTCTCCTGCTTCAGCCTTCTGGGTAGCTGAGATTACAGACGTGTGCCACCATGCCTGGCTAATATTTTTTGCATTTTTAAGAGAGACAAGGTTTCATCATGTTGGTCAGGCTGGTCTCAAACTCCTGAACTCAAATGACAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCC |
CALT : C |
60QUAL : 60 |
.FILTER : . |
AC=1; AF=0.011236; AN=89; AT=>11843673>[...]INFO : AC=1; AF=0.011236; AN=89; AT=>11843673>11843674>11843675,>11843673>11843675; LV=0; NS=45; e=221523880; s=299; rC=SINE/Alu |
GTFORMAT : GT |
0CHM13 : 0 |
0|0HG00438 : 0|0 |
0|0HG00621 : 0|0 |
0|0HG00673 : 0|0 |
0|0HG00733 : 0|0 |
0|0HG00735 : 0|0 |
0|0HG00741 : 0|0 |
0|0HG01071 : 0|0 |
0|0HG01106 : 0|0 |
0|1HG01109 : 0|1 |
0|0HG01123 : 0|0 |
0|0HG01175 : 0|0 |
0|0HG01243 : 0|0 |
0|0HG01258 : 0|0 |
0|0HG01358 : 0|0 |
0|0HG01361 : 0|0 |
0|0HG01891 : 0|0 |
0|0HG01928 : 0|0 |
0|0HG01952 : 0|0 |
0|0HG01978 : 0|0 |
0|0HG02055 : 0|0 |
0|0HG02080 : 0|0 |
0|0HG02109 : 0|0 |
0|0HG02145 : 0|0 |
0|0HG02148 : 0|0 |
0|0HG02257 : 0|0 |
0|0HG02486 : 0|0 |
0|0HG02559 : 0|0 |
0|0HG02572 : 0|0 |
0|0HG02622 : 0|0 |
0|0HG02630 : 0|0 |
0|0HG02717 : 0|0 |
0|0HG02723 : 0|0 |
0|0HG02818 : 0|0 |
0|0HG02886 : 0|0 |
0|0HG03098 : 0|0 |
0|0HG03453 : 0|0 |
0|0HG03486 : 0|0 |
0|0HG03492 : 0|0 |
0|0HG03516 : 0|0 |
0|0HG03540 : 0|0 |
0|0HG03579 : 0|0 |
0|0NA18906 : 0|0 |
0|0NA20129 : 0|0 |
0|0NA21309 : 0|0 |
|
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 299 |
splitAnnotation_mode : split |
EPHA4Gene_name : EPHA4; LOEUF_bin : 0 GnomAD_pLI : 1.0000e+00 ExAC_pLI : 9.9989e-01 HI : . TS : . DDD_HI_percent : 1.13 ACMG : . ExAC_cnvZ : 0.983574223167158 ExAC_delZ : 1.13727799129132 ExAC_dupZ : 0.637577531401268 ExAC_synZ : -0.0279108286767267 ExAC_misZ : 3.34532988891912 GenCC_disease : complex neurodevelopmental disorder GenCC_moi : AD GenCC_classification : Disputed Evidence GenCC_pmid : 19344873; 26537360; 28135719; 30542205 NCBI_gene_ID : 2043 |
intron2-intron2Location : intron2-intron2 CytoBand : q36.1 Location2 : CDS Tx : NM_001304537 Tx_version : 2 Tx_start : 221418026 Tx_end : 221572304 Exon_count : 17 Overlapped_tx_length : 299 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 22408 Nearest_SS_type : 3' Intersect_start : 221523580 Intersect_end : 221523879 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVar; gnomAD-SV_v3_DEL_chr2_d8522047B_loss_source : dbVar; gnomAD-SV_v3_DEL_chr2_d8522047 B_loss_coord : chr2:148424217-233186659; chr2:221505295-221537512 B_loss_AFmax : 0.0146 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
CHM13,HG01109Samples_ID : CHM13,HG01109 |
>11843673>11843675ID : >11843673>11843675 |
CTGGCCAGAATATTTTTTAGTAACTTTTTTTGAGACAGAGCCTCC[...]REF : CTGGCCAGAATATTTTTTAGTAACTTTTTTTGAGACAGAGCCTCCCTCTGTCACCCAGGCTGGAGTGCAGTGGTGTGATCCCGGCTCACTGCAACCTCCATCTCTGAGGTTCCAGAAATTCTCCTGCTTCAGCCTTCTGGGTAGCTGAGATTACAGACGTGTGCCACCATGCCTGGCTAATATTTTTTGCATTTTTAAGAGAGACAAGGTTTCATCATGTTGGTCAGGCTGGTCTCAAACTCCTGAACTCAAATGACAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCC |
CALT : C |
60QUAL : 60 |
.FILTER : . |
AC=1; AF=0.011236; AN=89; AT=>11843673>[...]INFO : AC=1; AF=0.011236; AN=89; AT=>11843673>11843674>11843675,>11843673>11843675; LV=0; NS=45; e=221523880; s=299; rC=SINE/Alu |
GTFORMAT : GT |
0CHM13 : 0 |
0|0HG00438 : 0|0 |
0|0HG00621 : 0|0 |
0|0HG00673 : 0|0 |
0|0HG00733 : 0|0 |
0|0HG00735 : 0|0 |
0|0HG00741 : 0|0 |
0|0HG01071 : 0|0 |
0|0HG01106 : 0|0 |
0|1HG01109 : 0|1 |
0|0HG01123 : 0|0 |
0|0HG01175 : 0|0 |
0|0HG01243 : 0|0 |
0|0HG01258 : 0|0 |
0|0HG01358 : 0|0 |
0|0HG01361 : 0|0 |
0|0HG01891 : 0|0 |
0|0HG01928 : 0|0 |
0|0HG01952 : 0|0 |
0|0HG01978 : 0|0 |
0|0HG02055 : 0|0 |
0|0HG02080 : 0|0 |
0|0HG02109 : 0|0 |
0|0HG02145 : 0|0 |
0|0HG02148 : 0|0 |
0|0HG02257 : 0|0 |
0|0HG02486 : 0|0 |
0|0HG02559 : 0|0 |
0|0HG02572 : 0|0 |
0|0HG02622 : 0|0 |
0|0HG02630 : 0|0 |
0|0HG02717 : 0|0 |
0|0HG02723 : 0|0 |
0|0HG02818 : 0|0 |
0|0HG02886 : 0|0 |
0|0HG03098 : 0|0 |
0|0HG03453 : 0|0 |
0|0HG03486 : 0|0 |
0|0HG03492 : 0|0 |
0|0HG03516 : 0|0 |
0|0HG03540 : 0|0 |
0|0HG03579 : 0|0 |
0|0NA18906 : 0|0 |
0|0NA20129 : 0|0 |
0|0NA21309 : 0|0 |
|
3ACMG_class : 3 AnnotSV_ranking_score : -0.6 AnnotSV_ranking_criteria : 1B (cf Gene_count, RE_gene, -0.60): Does NOT contain protein-coding or any known functionally important elements. 2B (cf po_P_loss_source, HI and OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material. 3A (0 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 304 Gene_count : 0 |
fullAnnotation_mode : full |
.Gene_name : . LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . Closest_left : PLD2 Closest_right : MINK1 |
.Location : . CytoBand : p13.2 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15138614; dbVar:nssv16208665; dbVar:nssv15134732; dbVar:nssv15132711; dbVar:nssv15134408; dbVar:nssv15133287; dbVar:nssv15159053; dbVar:nssv15132964; dbVar:nssv15134167 po_P_loss_coord : 17:150733-5935377; 17:158757-5724088; 17:162017-7697012; 17:162089-6959050; 17:193308-5652222; 17:2062381-5258340; 17:3432869-5015163; 17:3601516-7178024; 17:4044303-5943772 po_P_loss_percent : 0.01; 0.01; 0.00; 0.00; 0.01; 0.01; 0.02; 0.01; 0.02 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : 17:4830670-4830974 CMRI:2_pbsv.DEL.339_duplicate9 po_B_loss_someG_coord : chr17:4830384-4830689 HPRC:pbsv.DEL.1518 |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 17:4830385-4830688; 17:4830689-4830993 Repeat_type_left : AluSx1; AluSx1 Gap_left : . GC_content_left : 0.475 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : 17:4831018-4833067; 17:4831018-4833067; 17:4831018-4833067; 17:4831018-4833067 Repeat_coord_right : 17:4830689-4830993; 17:4830994-4831043; 17:4831045-4831328 Repeat_type_right : AluSx1; AluSx; AluSq Gap_right : . GC_content_right : 0.480 |
CHM13,HG00438,HG00621,HG00673,HG00733,HG00735[...]Samples_ID : CHM13,HG00438,HG00621,HG00673,HG00733,HG00735,HG00741,HG01071,HG01106,HG01109,HG01123,HG01175,HG01243,HG01258,HG01358,HG01361,HG01891,HG01928,HG01952,HG01978,HG02055,HG02080,HG02109,HG02145,HG02148,HG02257,HG02486,HG02559,HG02572,HG02622,HG02630,HG02717,HG02723,HG02818,HG02886,HG03098,HG03453,HG03486,HG03492,HG03516,HG03540,HG03579,NA18906,NA20129,NA21309 |
>67208914>67208912ID : >67208914>67208912 |
AAGTGCTGGGATTACAGGCGTGAGCCACTGCACCCGGCTTTTTTT[...]REF : AAGTGCTGGGATTACAGGCGTGAGCCACTGCACCCGGCTTTTTTTTTTTTTTTTTTTTTGAGACGTTGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGTTCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCGATTCTTCTGCATCGGCATCCCGAATAGCTGGGATTACAGGCGCCTGCCACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACATGGTTTCACCATGTTGTCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACTCGTCTCGGCCTCCCCAAA |
AALT : A |
60QUAL : 60 |
.FILTER : . |
AC=89; AF=1; AN=89; AT=>67208914>672089[...]INFO : AC=89; AF=1; AN=89; AT=>67208914>67208913>67208912,>67208914>67208912; LV=0; NS=45; e=4830955; s=304; rC=SINE/Alu |
GTFORMAT : GT |
1CHM13 : 1 |
1|1HG00438 : 1|1 |
1|1HG00621 : 1|1 |
1|1HG00673 : 1|1 |
1|1HG00733 : 1|1 |
1|1HG00735 : 1|1 |
1|1HG00741 : 1|1 |
1|1HG01071 : 1|1 |
1|1HG01106 : 1|1 |
1|1HG01109 : 1|1 |
1|1HG01123 : 1|1 |
1|1HG01175 : 1|1 |
1|1HG01243 : 1|1 |
1|1HG01258 : 1|1 |
1|1HG01358 : 1|1 |
1|1HG01361 : 1|1 |
1|1HG01891 : 1|1 |
1|1HG01928 : 1|1 |
1|1HG01952 : 1|1 |
1|1HG01978 : 1|1 |
1|1HG02055 : 1|1 |
1|1HG02080 : 1|1 |
1|1HG02109 : 1|1 |
1|1HG02145 : 1|1 |
1|1HG02148 : 1|1 |
1|1HG02257 : 1|1 |
1|1HG02486 : 1|1 |
1|1HG02559 : 1|1 |
1|1HG02572 : 1|1 |
1|1HG02622 : 1|1 |
1|1HG02630 : 1|1 |
1|1HG02717 : 1|1 |
1|1HG02723 : 1|1 |
1|1HG02818 : 1|1 |
1|1HG02886 : 1|1 |
1|1HG03098 : 1|1 |
1|1HG03453 : 1|1 |
1|1HG03486 : 1|1 |
1|1HG03492 : 1|1 |
1|1HG03516 : 1|1 |
1|1HG03540 : 1|1 |
1|1HG03579 : 1|1 |
1|1NA18906 : 1|1 |
1|1NA20129 : 1|1 |
1|1NA21309 : 1|1 |
|
3ACMG_class : 3 AnnotSV_ranking_score : -0.6 AnnotSV_ranking_criteria : 1B (cf Gene_count, RE_gene, -0.60): Does NOT contain protein-coding or any known functionally important elements. 2B (cf po_P_loss_source, HI and OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material. 3A (0 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 112 Gene_count : 0 |
fullAnnotation_mode : full |
.Gene_name : . LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . Closest_left : PROKR1 Closest_right : ARHGAP25 |
.Location : . CytoBand : p13.3 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv18326420; dbVar:nssv15155128; dbVar:nssv15124851; dbVar:nssv15137739; dbVar:nssv15605769 po_P_loss_coord : 2:11364193-110608419; 2:40379903-146145196; 2:50659295-242160331; 2:64587096-69876311; 2:67264247-69452272 po_P_loss_percent : 0.00; 0.00; 0.00; 0.00; 0.01 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : chr2:68678622-68678732 dbVar |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 2:68677862-68680074 Repeat_type_left : L1PA3 Gap_left : . GC_content_left : 0.460 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 2:68677862-68680074 Repeat_type_right : L1PA3 Gap_right : . GC_content_right : 0.405 |
CHM13,HG02055,NA20129Samples_ID : CHM13,HG02055,NA20129 |
>7371595>7371597ID : >7371595>7371597 |
TGGATAATATCCTGCAGAGTGTTTTCCAACTTGGTTCCATTCTCC[...]REF : TGGATAATATCCTGCAGAGTGTTTTCCAACTTGGTTCCATTCTCCCCGTCACTTTCAGGTACACCAATCAGACGTAGATTTGGTCTTTTCACATAGTCCCATATGTCTTGGAG |
TALT : T |
60QUAL : 60 |
.FILTER : . |
AC=2; AF=0.0224719; AN=89; AT=>7371595>[...]INFO : AC=2; AF=0.0224719; AN=89; AT=>7371595>7371596>7371597,>7371595>7371597; LV=0; NS=45; e=68678732; s=112; rC=LINE/L1 |
GTFORMAT : GT |
0CHM13 : 0 |
0|0HG00438 : 0|0 |
0|0HG00621 : 0|0 |
0|0HG00673 : 0|0 |
0|0HG00733 : 0|0 |
0|0HG00735 : 0|0 |
0|0HG00741 : 0|0 |
0|0HG01071 : 0|0 |
0|0HG01106 : 0|0 |
0|0HG01109 : 0|0 |
0|0HG01123 : 0|0 |
0|0HG01175 : 0|0 |
0|0HG01243 : 0|0 |
0|0HG01258 : 0|0 |
0|0HG01358 : 0|0 |
0|0HG01361 : 0|0 |
0|0HG01891 : 0|0 |
0|0HG01928 : 0|0 |
0|0HG01952 : 0|0 |
0|0HG01978 : 0|0 |
0|1HG02055 : 0|1 |
0|0HG02080 : 0|0 |
0|0HG02109 : 0|0 |
0|0HG02145 : 0|0 |
0|0HG02148 : 0|0 |
0|0HG02257 : 0|0 |
0|0HG02486 : 0|0 |
0|0HG02559 : 0|0 |
0|0HG02572 : 0|0 |
0|0HG02622 : 0|0 |
0|0HG02630 : 0|0 |
0|0HG02717 : 0|0 |
0|0HG02723 : 0|0 |
0|0HG02818 : 0|0 |
0|0HG02886 : 0|0 |
0|0HG03098 : 0|0 |
0|0HG03453 : 0|0 |
0|0HG03486 : 0|0 |
0|0HG03492 : 0|0 |
0|0HG03516 : 0|0 |
0|0HG03540 : 0|0 |
0|0HG03579 : 0|0 |
0|0NA18906 : 0|0 |
0|1NA20129 : 0|1 |
0|0NA21309 : 0|0 |
|
1ACMG_class : 1 AnnotSV_ranking_score : -1.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2F/4O (cf B_loss_source, -1.00): Completely contained within an established benign CNV region. 2B (cf po_P_loss_source, HI and OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 3A (3 genes, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 354 Gene_count : 3 |
fullAnnotation_mode : full |
CAST; LOC101929710; LOC105379096; [...3genes]Gene_name : CAST; LOC101929710; LOC105379096; LOEUF_bin : 4 GnomAD_pLI : 4.1218e-12 ExAC_pLI : 1.5558e-06 HI : . TS : . DDD_HI_percent : 41.16 ExAC_cnvZ : 0.337956608066878 ExAC_delZ : 0.329830436621992 ExAC_dupZ : 0.269758724720572 ExAC_synZ : -0.324923256966859 ExAC_misZ : -1.73245443164327 Closest_left : ELL2 Closest_right : MIR583 |
.Location : . CytoBand : q15 |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15151179; dbVar:nssv15138006; dbVar:nssv15143209; nssv17976344; dbVar:nssv15132311; dbVar:nssv15121951; dbVar:nssv15138054; dbVar:nssv15120743; dbVar:nssv15139660; dbVar:nssv15152898; dbVar:nssv15138529; dbVar:nssv15138770; dbVar:nssv17970039; dbVar:nssv18790898; dbVar:nssv15142185 po_P_loss_coord : 5:17628633-177148719; 5:84603581-111435081; 5:87104184-154620440; 5:87376884-101524443; 5:89081353-104687248; 5:90374607-128076423; 5:91386553-98365880; 5:91411709-131319563; 5:92208285-105522647; 5:92899735-119614119; 5:93193105-113287795; 5:94314296-115633411; 5:95464608-96771679; 5:95714263-104201888 po_P_loss_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.01; 0.00; 0.00; 0.00; 0.00; 0.00; 0.03; 0.00 |
.P_snvindel_nb : . P_snvindel_phen : . |
CMRI:0_pbsv.DEL.1242_duplicate2; HPRC:pbsv.DE[...]B_loss_source : CMRI:0_pbsv.DEL.1242_duplicate2; HPRC:pbsv.DEL.7211; dbVar; gnomAD-SV_v3_DEL_chr5_aabe3108 B_loss_coord : chr5:96007311-96007961; 5:96007607-96007961; chr5:96007607-96007961; chr5:96007607-96007961 B_loss_AFmax : 0.9903 po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : 5:96007607-96007961 CMRI:0_pbsv.DEL.1242_duplicate2; chr5:96007607-96007961 dbVar; chr5:96007608-96007961 dbVar; po_B_loss_someG_coord : chr5:96007311-96007961 gnomAD-SV_v3_DEL_chr5_aabe3108; chr5:96007607-96007961 HPRC:pbsv.DEL.7211; 5:96007608-96007961 1000g; chr5:96007622-96007977 dbVar |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 5:96007452-96007623; 5:96007624-96007935 Repeat_type_left : MLT1A; AluYa5 Gap_left : . GC_content_left : 0.555 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 5:96007624-96007935; 5:96007936-96008174 Repeat_type_right : AluYa5; MLT1A Gap_right : . GC_content_right : 0.405 |
CHM13,HG00438,HG00621,HG00673,HG00733,HG00735[...]Samples_ID : CHM13,HG00438,HG00621,HG00673,HG00733,HG00735,HG00741,HG01071,HG01106,HG01109,HG01123,HG01175,HG01243,HG01258,HG01358,HG01361,HG01891,HG01928,HG01952,HG01978,HG02055,HG02080,HG02109,HG02145,HG02148,HG02257,HG02486,HG02559,HG02572,HG02622,HG02630,HG02717,HG02723,HG02818,HG02886,HG03098,HG03453,HG03486,HG03492,HG03516,HG03540,HG03579,NA18906,NA20129,NA21309 |
>25921153>25921155ID : >25921153>25921155 |
TAAGAAGAGGAAGATGGGGCCGGGCGCGGTGGCTCACGCCTGTAA[...]REF : TAAGAAGAGGAAGATGGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA |
TALT : T |
60QUAL : 60 |
.FILTER : . |
AC=89; AF=1; AN=89; AT=>25921153>259211[...]INFO : AC=89; AF=1; AN=89; AT=>25921153>25921154>25921155,>25921153>25921155; LV=1; NS=45; PS=>25662516>25796736; e=96007961; s=354; rC=SINE/Alu |
GTFORMAT : GT |
1CHM13 : 1 |
1|1HG00438 : 1|1 |
1|1HG00621 : 1|1 |
1|1HG00673 : 1|1 |
1|1HG00733 : 1|1 |
1|1HG00735 : 1|1 |
1|1HG00741 : 1|1 |
1|1HG01071 : 1|1 |
1|1HG01106 : 1|1 |
1|1HG01109 : 1|1 |
1|1HG01123 : 1|1 |
1|1HG01175 : 1|1 |
1|1HG01243 : 1|1 |
1|1HG01258 : 1|1 |
1|1HG01358 : 1|1 |
1|1HG01361 : 1|1 |
1|1HG01891 : 1|1 |
1|1HG01928 : 1|1 |
1|1HG01952 : 1|1 |
1|1HG01978 : 1|1 |
1|1HG02055 : 1|1 |
1|1HG02080 : 1|1 |
1|1HG02109 : 1|1 |
1|1HG02145 : 1|1 |
1|1HG02148 : 1|1 |
1|1HG02257 : 1|1 |
1|1HG02486 : 1|1 |
1|1HG02559 : 1|1 |
1|1HG02572 : 1|1 |
1|1HG02622 : 1|1 |
1|1HG02630 : 1|1 |
1|1HG02717 : 1|1 |
1|1HG02723 : 1|1 |
1|1HG02818 : 1|1 |
1|1HG02886 : 1|1 |
1|1HG03098 : 1|1 |
1|1HG03453 : 1|1 |
1|1HG03486 : 1|1 |
1|1HG03492 : 1|1 |
1|1HG03516 : 1|1 |
1|1HG03540 : 1|1 |
1|1HG03579 : 1|1 |
1|1NA18906 : 1|1 |
1|1NA20129 : 1|1 |
1|1NA21309 : 1|1 |
||
full=1ACMG_class : full=1 |
DELSV_type : DEL SV_length : 354 |
splitAnnotation_mode : split |
CASTGene_name : CAST; LOEUF_bin : 4 GnomAD_pLI : 4.1218e-12 ExAC_pLI : 1.5558e-06 HI : . TS : . DDD_HI_percent : 41.16 ACMG : . ExAC_cnvZ : 0.337956608066878 ExAC_delZ : 0.329830436621992 ExAC_dupZ : 0.269758724720572 ExAC_synZ : -0.324923256966859 ExAC_misZ : -1.73245443164327 GenCC_disease : peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome GenCC_moi : AR GenCC_classification : Moderate; Strong; Supportive GenCC_pmid : 25683118; 25683118[PMID]; 28851602 NCBI_gene_ID : 831 |
intron1-intron1Location : intron1-intron1 CytoBand : q15 Location2 : UTR Tx : NR_186779 Tx_version : 1 Tx_start : 95961428 Tx_end : 96381455 Exon_count : 6 Overlapped_tx_length : 354 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 46020 Nearest_SS_type : 5' Intersect_start : 96007606 Intersect_end : 96007960 |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
CMRI:0_pbsv.DEL.1242_duplicate2; HPRC:pbsv.DE[...]B_loss_source : CMRI:0_pbsv.DEL.1242_duplicate2; HPRC:pbsv.DEL.7211; dbVar; gnomAD-SV_v3_DEL_chr5_aabe3108 B_loss_coord : chr5:96007311-96007961; 5:96007607-96007961; chr5:96007607-96007961; chr5:96007607-96007961 B_loss_AFmax : 0.9903 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
CHM13,HG00438,HG00621,HG00673,HG00733,HG00735[...]Samples_ID : CHM13,HG00438,HG00621,HG00673,HG00733,HG00735,HG00741,HG01071,HG01106,HG01109,HG01123,HG01175,HG01243,HG01258,HG01358,HG01361,HG01891,HG01928,HG01952,HG01978,HG02055,HG02080,HG02109,HG02145,HG02148,HG02257,HG02486,HG02559,HG02572,HG02622,HG02630,HG02717,HG02723,HG02818,HG02886,HG03098,HG03453,HG03486,HG03492,HG03516,HG03540,HG03579,NA18906,NA20129,NA21309 |
>25921153>25921155ID : >25921153>25921155 |
TAAGAAGAGGAAGATGGGGCCGGGCGCGGTGGCTCACGCCTGTAA[...]REF : TAAGAAGAGGAAGATGGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA |
TALT : T |
60QUAL : 60 |
.FILTER : . |
AC=89; AF=1; AN=89; AT=>25921153>259211[...]INFO : AC=89; AF=1; AN=89; AT=>25921153>25921154>25921155,>25921153>25921155; LV=1; NS=45; PS=>25662516>25796736; e=96007961; s=354; rC=SINE/Alu |
GTFORMAT : GT |
1CHM13 : 1 |
1|1HG00438 : 1|1 |
1|1HG00621 : 1|1 |
1|1HG00673 : 1|1 |
1|1HG00733 : 1|1 |
1|1HG00735 : 1|1 |
1|1HG00741 : 1|1 |
1|1HG01071 : 1|1 |
1|1HG01106 : 1|1 |
1|1HG01109 : 1|1 |
1|1HG01123 : 1|1 |
1|1HG01175 : 1|1 |
1|1HG01243 : 1|1 |
1|1HG01258 : 1|1 |
1|1HG01358 : 1|1 |
1|1HG01361 : 1|1 |
1|1HG01891 : 1|1 |
1|1HG01928 : 1|1 |
1|1HG01952 : 1|1 |
1|1HG01978 : 1|1 |
1|1HG02055 : 1|1 |
1|1HG02080 : 1|1 |
1|1HG02109 : 1|1 |
1|1HG02145 : 1|1 |
1|1HG02148 : 1|1 |
1|1HG02257 : 1|1 |
1|1HG02486 : 1|1 |
1|1HG02559 : 1|1 |
1|1HG02572 : 1|1 |
1|1HG02622 : 1|1 |
1|1HG02630 : 1|1 |
1|1HG02717 : 1|1 |
1|1HG02723 : 1|1 |
1|1HG02818 : 1|1 |
1|1HG02886 : 1|1 |
1|1HG03098 : 1|1 |
1|1HG03453 : 1|1 |
1|1HG03486 : 1|1 |
1|1HG03492 : 1|1 |
1|1HG03516 : 1|1 |
1|1HG03540 : 1|1 |
1|1HG03579 : 1|1 |
1|1NA18906 : 1|1 |
1|1NA20129 : 1|1 |
1|1NA21309 : 1|1 |
||
full=1ACMG_class : full=1 |
DELSV_type : DEL SV_length : 354 |
splitAnnotation_mode : split |
LOC101929710Gene_name : LOC101929710; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
intron1-intron1Location : intron1-intron1 CytoBand : q15 Location2 : UTR Tx : NR_130776 Tx_version : 1 Tx_start : 95962000 Tx_end : 96631085 Exon_count : 5 Overlapped_tx_length : 354 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 45570 Nearest_SS_type : 5' Intersect_start : 96007606 Intersect_end : 96007960 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
CMRI:0_pbsv.DEL.1242_duplicate2; HPRC:pbsv.DE[...]B_loss_source : CMRI:0_pbsv.DEL.1242_duplicate2; HPRC:pbsv.DEL.7211; dbVar; gnomAD-SV_v3_DEL_chr5_aabe3108 B_loss_coord : chr5:96007311-96007961; 5:96007607-96007961; chr5:96007607-96007961; chr5:96007607-96007961 B_loss_AFmax : 0.9903 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
CHM13,HG00438,HG00621,HG00673,HG00733,HG00735[...]Samples_ID : CHM13,HG00438,HG00621,HG00673,HG00733,HG00735,HG00741,HG01071,HG01106,HG01109,HG01123,HG01175,HG01243,HG01258,HG01358,HG01361,HG01891,HG01928,HG01952,HG01978,HG02055,HG02080,HG02109,HG02145,HG02148,HG02257,HG02486,HG02559,HG02572,HG02622,HG02630,HG02717,HG02723,HG02818,HG02886,HG03098,HG03453,HG03486,HG03492,HG03516,HG03540,HG03579,NA18906,NA20129,NA21309 |
>25921153>25921155ID : >25921153>25921155 |
TAAGAAGAGGAAGATGGGGCCGGGCGCGGTGGCTCACGCCTGTAA[...]REF : TAAGAAGAGGAAGATGGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA |
TALT : T |
60QUAL : 60 |
.FILTER : . |
AC=89; AF=1; AN=89; AT=>25921153>259211[...]INFO : AC=89; AF=1; AN=89; AT=>25921153>25921154>25921155,>25921153>25921155; LV=1; NS=45; PS=>25662516>25796736; e=96007961; s=354; rC=SINE/Alu |
GTFORMAT : GT |
1CHM13 : 1 |
1|1HG00438 : 1|1 |
1|1HG00621 : 1|1 |
1|1HG00673 : 1|1 |
1|1HG00733 : 1|1 |
1|1HG00735 : 1|1 |
1|1HG00741 : 1|1 |
1|1HG01071 : 1|1 |
1|1HG01106 : 1|1 |
1|1HG01109 : 1|1 |
1|1HG01123 : 1|1 |
1|1HG01175 : 1|1 |
1|1HG01243 : 1|1 |
1|1HG01258 : 1|1 |
1|1HG01358 : 1|1 |
1|1HG01361 : 1|1 |
1|1HG01891 : 1|1 |
1|1HG01928 : 1|1 |
1|1HG01952 : 1|1 |
1|1HG01978 : 1|1 |
1|1HG02055 : 1|1 |
1|1HG02080 : 1|1 |
1|1HG02109 : 1|1 |
1|1HG02145 : 1|1 |
1|1HG02148 : 1|1 |
1|1HG02257 : 1|1 |
1|1HG02486 : 1|1 |
1|1HG02559 : 1|1 |
1|1HG02572 : 1|1 |
1|1HG02622 : 1|1 |
1|1HG02630 : 1|1 |
1|1HG02717 : 1|1 |
1|1HG02723 : 1|1 |
1|1HG02818 : 1|1 |
1|1HG02886 : 1|1 |
1|1HG03098 : 1|1 |
1|1HG03453 : 1|1 |
1|1HG03486 : 1|1 |
1|1HG03492 : 1|1 |
1|1HG03516 : 1|1 |
1|1HG03540 : 1|1 |
1|1HG03579 : 1|1 |
1|1NA18906 : 1|1 |
1|1NA20129 : 1|1 |
1|1NA21309 : 1|1 |
|
full=1ACMG_class : full=1 |
DELSV_type : DEL SV_length : 354 |
splitAnnotation_mode : split |
LOC105379096Gene_name : LOC105379096; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
intron2-intron2Location : intron2-intron2 CytoBand : q15 Location2 : UTR Tx : XR_001742447 Tx_version : 2 Tx_start : 95986265 Tx_end : 96072467 Exon_count : 4 Overlapped_tx_length : 354 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 19419 Nearest_SS_type : 3' Intersect_start : 96007606 Intersect_end : 96007960 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
CMRI:0_pbsv.DEL.1242_duplicate2; HPRC:pbsv.DE[...]B_loss_source : CMRI:0_pbsv.DEL.1242_duplicate2; HPRC:pbsv.DEL.7211; dbVar; gnomAD-SV_v3_DEL_chr5_aabe3108 B_loss_coord : chr5:96007311-96007961; 5:96007607-96007961; chr5:96007607-96007961; chr5:96007607-96007961 B_loss_AFmax : 0.9903 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
CHM13,HG00438,HG00621,HG00673,HG00733,HG00735[...]Samples_ID : CHM13,HG00438,HG00621,HG00673,HG00733,HG00735,HG00741,HG01071,HG01106,HG01109,HG01123,HG01175,HG01243,HG01258,HG01358,HG01361,HG01891,HG01928,HG01952,HG01978,HG02055,HG02080,HG02109,HG02145,HG02148,HG02257,HG02486,HG02559,HG02572,HG02622,HG02630,HG02717,HG02723,HG02818,HG02886,HG03098,HG03453,HG03486,HG03492,HG03516,HG03540,HG03579,NA18906,NA20129,NA21309 |
>25921153>25921155ID : >25921153>25921155 |
TAAGAAGAGGAAGATGGGGCCGGGCGCGGTGGCTCACGCCTGTAA[...]REF : TAAGAAGAGGAAGATGGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA |
TALT : T |
60QUAL : 60 |
.FILTER : . |
AC=89; AF=1; AN=89; AT=>25921153>259211[...]INFO : AC=89; AF=1; AN=89; AT=>25921153>25921154>25921155,>25921153>25921155; LV=1; NS=45; PS=>25662516>25796736; e=96007961; s=354; rC=SINE/Alu |
GTFORMAT : GT |
1CHM13 : 1 |
1|1HG00438 : 1|1 |
1|1HG00621 : 1|1 |
1|1HG00673 : 1|1 |
1|1HG00733 : 1|1 |
1|1HG00735 : 1|1 |
1|1HG00741 : 1|1 |
1|1HG01071 : 1|1 |
1|1HG01106 : 1|1 |
1|1HG01109 : 1|1 |
1|1HG01123 : 1|1 |
1|1HG01175 : 1|1 |
1|1HG01243 : 1|1 |
1|1HG01258 : 1|1 |
1|1HG01358 : 1|1 |
1|1HG01361 : 1|1 |
1|1HG01891 : 1|1 |
1|1HG01928 : 1|1 |
1|1HG01952 : 1|1 |
1|1HG01978 : 1|1 |
1|1HG02055 : 1|1 |
1|1HG02080 : 1|1 |
1|1HG02109 : 1|1 |
1|1HG02145 : 1|1 |
1|1HG02148 : 1|1 |
1|1HG02257 : 1|1 |
1|1HG02486 : 1|1 |
1|1HG02559 : 1|1 |
1|1HG02572 : 1|1 |
1|1HG02622 : 1|1 |
1|1HG02630 : 1|1 |
1|1HG02717 : 1|1 |
1|1HG02723 : 1|1 |
1|1HG02818 : 1|1 |
1|1HG02886 : 1|1 |
1|1HG03098 : 1|1 |
1|1HG03453 : 1|1 |
1|1HG03486 : 1|1 |
1|1HG03492 : 1|1 |
1|1HG03516 : 1|1 |
1|1HG03540 : 1|1 |
1|1HG03579 : 1|1 |
1|1NA18906 : 1|1 |
1|1NA20129 : 1|1 |
1|1NA21309 : 1|1 |
|
1ACMG_class : 1 AnnotSV_ranking_score : -1.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2F/4O (cf B_loss_source, -1.00): Completely contained within an established benign CNV region. 2B (cf po_P_loss_source, HI and OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 3A (2 genes, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 374 Gene_count : 2 |
fullAnnotation_mode : full |
LOC105370906; LINGO1; [...2genes]Gene_name : LOC105370906; LINGO1; LOEUF_bin : 0 GnomAD_pLI : 9.9413e-01 ExAC_pLI : 9.5212e-01 HI : . TS : . DDD_HI_percent : 14.58 ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : 0.309270287685539 ExAC_misZ : 4.23412300392008 Closest_left : LOC101929457 Closest_right : LINGO1-AS1 |
.Location : . CytoBand : q24.3 |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : Intellectual developmental disorder, AR 64, 618103 (3) AR po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15127755; dbVar:nssv15127602; dbVar:nssv15145986; dbVar:nssv15136327; morbid:LINGO1 po_P_loss_coord : 15:23377380-101981189; 15:28917418-101981189; 15:70025301-78705993; 15:76006155-79982417; 15:77613027-77820900 po_P_loss_percent : 0.00; 0.00; 0.00; 0.01; 0.18 |
.P_snvindel_nb : . P_snvindel_phen : . |
CMRI:0_pbsv.DEL.757_duplicate4; HPRC:pbsv.DEL[...]B_loss_source : CMRI:0_pbsv.DEL.757_duplicate4; HPRC:pbsv.DEL.3897; dbVar B_loss_coord : 15:77618519-77618893; chr15:77618519-77618893; chr15:77618519-77618893 B_loss_AFmax : 1.0000 po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : chr15:56865558-77618525 gnomAD-SV_v3_DEL_chr15_c4d4814a; chr15:77618519-77618893 HPRC:pbsv.DEL.3897; 15:77618520-77618893 1000g; po_B_loss_someG_coord : chr15:32070448-77618522 gnomAD-SV_v3_DEL_chr15_6b875bca; 15:77618519-77618893 CMRI:0_pbsv.DEL.757_duplicate4; chr15:77618519-77618893 dbVar; chr15:77618520-77618893 dbVar |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 15:77618529-77618607; 15:77618608-77618894 Repeat_type_left : (T)n; AluYa5 Gap_left : . GC_content_left : 0.340 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 15:77618608-77618894 Repeat_type_right : AluYa5 Gap_right : . GC_content_right : 0.500 |
CHM13,HG00438,HG00621,HG00673,HG00733,HG00735[...]Samples_ID : CHM13,HG00438,HG00621,HG00673,HG00733,HG00735,HG00741,HG01071,HG01106,HG01109,HG01123,HG01175,HG01243,HG01258,HG01358,HG01361,HG01891,HG01928,HG01952,HG01978,HG02055,HG02080,HG02109,HG02145,HG02148,HG02257,HG02486,HG02559,HG02572,HG02622,HG02630,HG02717,HG02723,HG02818,HG02886,HG03098,HG03453,HG03486,HG03492,HG03516,HG03540,HG03579,NA18906,NA20129,NA21309 |
<61034927<61034929ID : <61034927<61034929 |
ACTGTTATTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[...]REF : ACTGTTATTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTGTATTTTTTTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGCCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGC |
AALT : A |
60QUAL : 60 |
.FILTER : . |
AC=89; AF=1; AN=89; AT=>61034929>610349[...]INFO : AC=89; AF=1; AN=89; AT=>61034929>61034928>61034927,>61034929>61034927; CONFLICT=NA18906; LV=0; NS=45; e=77618893; s=374; rC=SINE/Alu |
GTFORMAT : GT |
1CHM13 : 1 |
1|1HG00438 : 1|1 |
1|1HG00621 : 1|1 |
1|1HG00673 : 1|1 |
1|1HG00733 : 1|1 |
1|1HG00735 : 1|1 |
1|1HG00741 : 1|1 |
1|1HG01071 : 1|1 |
1|1HG01106 : 1|1 |
1|1HG01109 : 1|1 |
1|1HG01123 : 1|1 |
1|1HG01175 : 1|1 |
1|1HG01243 : 1|1 |
1|1HG01258 : 1|1 |
1|1HG01358 : 1|1 |
1|1HG01361 : 1|1 |
1|1HG01891 : 1|1 |
1|1HG01928 : 1|1 |
1|1HG01952 : 1|1 |
1|1HG01978 : 1|1 |
1|1HG02055 : 1|1 |
1|1HG02080 : 1|1 |
1|1HG02109 : 1|1 |
1|1HG02145 : 1|1 |
1|1HG02148 : 1|1 |
1|1HG02257 : 1|1 |
1|1HG02486 : 1|1 |
1|1HG02559 : 1|1 |
1|1HG02572 : 1|1 |
1|1HG02622 : 1|1 |
1|1HG02630 : 1|1 |
1|1HG02717 : 1|1 |
1|1HG02723 : 1|1 |
1|1HG02818 : 1|1 |
1|1HG02886 : 1|1 |
1|1HG03098 : 1|1 |
1|1HG03453 : 1|1 |
1|1HG03486 : 1|1 |
1|1HG03492 : 1|1 |
1|1HG03516 : 1|1 |
1|1HG03540 : 1|1 |
1|1HG03579 : 1|1 |
1|1NA18906 : 1|1 |
1|1NA20129 : 1|1 |
1|1NA21309 : 1|1 |
||
full=1ACMG_class : full=1 |
DELSV_type : DEL SV_length : 374 |
splitAnnotation_mode : split |
LINGO1Gene_name : LINGO1; LOEUF_bin : 0 GnomAD_pLI : 9.9413e-01 ExAC_pLI : 9.5212e-01 HI : . TS : . DDD_HI_percent : 14.58 ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : 0.309270287685539 ExAC_misZ : 4.23412300392008 GenCC_disease : intellectual disability, autosomal recessive 64 GenCC_moi : AR GenCC_classification : Limited GenCC_pmid : 15895088; 27457812; 28135719; 28805617; 28837161; 30842974 NCBI_gene_ID : 84894 |
intron1-intron1Location : intron1-intron1 CytoBand : q24.3 Location2 : CDS Tx : NM_032808 Tx_version : 7 Tx_start : 77613026 Tx_end : 77632912 Exon_count : 2 Overlapped_tx_length : 374 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 2618 Nearest_SS_type : 3' Intersect_start : 77618518 Intersect_end : 77618892 |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
CMRI:0_pbsv.DEL.757_duplicate4; HPRC:pbsv.DEL[...]B_loss_source : CMRI:0_pbsv.DEL.757_duplicate4; HPRC:pbsv.DEL.3897; dbVar B_loss_coord : 15:77618519-77618893; chr15:77618519-77618893; chr15:77618519-77618893 B_loss_AFmax : 1.0000 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
CHM13,HG00438,HG00621,HG00673,HG00733,HG00735[...]Samples_ID : CHM13,HG00438,HG00621,HG00673,HG00733,HG00735,HG00741,HG01071,HG01106,HG01109,HG01123,HG01175,HG01243,HG01258,HG01358,HG01361,HG01891,HG01928,HG01952,HG01978,HG02055,HG02080,HG02109,HG02145,HG02148,HG02257,HG02486,HG02559,HG02572,HG02622,HG02630,HG02717,HG02723,HG02818,HG02886,HG03098,HG03453,HG03486,HG03492,HG03516,HG03540,HG03579,NA18906,NA20129,NA21309 |
<61034927<61034929ID : <61034927<61034929 |
ACTGTTATTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[...]REF : ACTGTTATTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTGTATTTTTTTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGCCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGC |
AALT : A |
60QUAL : 60 |
.FILTER : . |
AC=89; AF=1; AN=89; AT=>61034929>610349[...]INFO : AC=89; AF=1; AN=89; AT=>61034929>61034928>61034927,>61034929>61034927; CONFLICT=NA18906; LV=0; NS=45; e=77618893; s=374; rC=SINE/Alu |
GTFORMAT : GT |
1CHM13 : 1 |
1|1HG00438 : 1|1 |
1|1HG00621 : 1|1 |
1|1HG00673 : 1|1 |
1|1HG00733 : 1|1 |
1|1HG00735 : 1|1 |
1|1HG00741 : 1|1 |
1|1HG01071 : 1|1 |
1|1HG01106 : 1|1 |
1|1HG01109 : 1|1 |
1|1HG01123 : 1|1 |
1|1HG01175 : 1|1 |
1|1HG01243 : 1|1 |
1|1HG01258 : 1|1 |
1|1HG01358 : 1|1 |
1|1HG01361 : 1|1 |
1|1HG01891 : 1|1 |
1|1HG01928 : 1|1 |
1|1HG01952 : 1|1 |
1|1HG01978 : 1|1 |
1|1HG02055 : 1|1 |
1|1HG02080 : 1|1 |
1|1HG02109 : 1|1 |
1|1HG02145 : 1|1 |
1|1HG02148 : 1|1 |
1|1HG02257 : 1|1 |
1|1HG02486 : 1|1 |
1|1HG02559 : 1|1 |
1|1HG02572 : 1|1 |
1|1HG02622 : 1|1 |
1|1HG02630 : 1|1 |
1|1HG02717 : 1|1 |
1|1HG02723 : 1|1 |
1|1HG02818 : 1|1 |
1|1HG02886 : 1|1 |
1|1HG03098 : 1|1 |
1|1HG03453 : 1|1 |
1|1HG03486 : 1|1 |
1|1HG03492 : 1|1 |
1|1HG03516 : 1|1 |
1|1HG03540 : 1|1 |
1|1HG03579 : 1|1 |
1|1NA18906 : 1|1 |
1|1NA20129 : 1|1 |
1|1NA21309 : 1|1 |
||
full=1ACMG_class : full=1 |
DELSV_type : DEL SV_length : 374 |
splitAnnotation_mode : split |
LOC105370906Gene_name : LOC105370906; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
intron3-intron3Location : intron3-intron3 CytoBand : q24.3 Location2 : UTR Tx : XR_001751806 Tx_version : 2 Tx_start : 77568858 Tx_end : 77630461 Exon_count : 4 Overlapped_tx_length : 374 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 11392 Nearest_SS_type : 3' Intersect_start : 77618518 Intersect_end : 77618892 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
CMRI:0_pbsv.DEL.757_duplicate4; HPRC:pbsv.DEL[...]B_loss_source : CMRI:0_pbsv.DEL.757_duplicate4; HPRC:pbsv.DEL.3897; dbVar B_loss_coord : 15:77618519-77618893; chr15:77618519-77618893; chr15:77618519-77618893 B_loss_AFmax : 1.0000 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
CHM13,HG00438,HG00621,HG00673,HG00733,HG00735[...]Samples_ID : CHM13,HG00438,HG00621,HG00673,HG00733,HG00735,HG00741,HG01071,HG01106,HG01109,HG01123,HG01175,HG01243,HG01258,HG01358,HG01361,HG01891,HG01928,HG01952,HG01978,HG02055,HG02080,HG02109,HG02145,HG02148,HG02257,HG02486,HG02559,HG02572,HG02622,HG02630,HG02717,HG02723,HG02818,HG02886,HG03098,HG03453,HG03486,HG03492,HG03516,HG03540,HG03579,NA18906,NA20129,NA21309 |
<61034927<61034929ID : <61034927<61034929 |
ACTGTTATTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[...]REF : ACTGTTATTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTGTATTTTTTTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGCCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGC |
AALT : A |
60QUAL : 60 |
.FILTER : . |
AC=89; AF=1; AN=89; AT=>61034929>610349[...]INFO : AC=89; AF=1; AN=89; AT=>61034929>61034928>61034927,>61034929>61034927; CONFLICT=NA18906; LV=0; NS=45; e=77618893; s=374; rC=SINE/Alu |
GTFORMAT : GT |
1CHM13 : 1 |
1|1HG00438 : 1|1 |
1|1HG00621 : 1|1 |
1|1HG00673 : 1|1 |
1|1HG00733 : 1|1 |
1|1HG00735 : 1|1 |
1|1HG00741 : 1|1 |
1|1HG01071 : 1|1 |
1|1HG01106 : 1|1 |
1|1HG01109 : 1|1 |
1|1HG01123 : 1|1 |
1|1HG01175 : 1|1 |
1|1HG01243 : 1|1 |
1|1HG01258 : 1|1 |
1|1HG01358 : 1|1 |
1|1HG01361 : 1|1 |
1|1HG01891 : 1|1 |
1|1HG01928 : 1|1 |
1|1HG01952 : 1|1 |
1|1HG01978 : 1|1 |
1|1HG02055 : 1|1 |
1|1HG02080 : 1|1 |
1|1HG02109 : 1|1 |
1|1HG02145 : 1|1 |
1|1HG02148 : 1|1 |
1|1HG02257 : 1|1 |
1|1HG02486 : 1|1 |
1|1HG02559 : 1|1 |
1|1HG02572 : 1|1 |
1|1HG02622 : 1|1 |
1|1HG02630 : 1|1 |
1|1HG02717 : 1|1 |
1|1HG02723 : 1|1 |
1|1HG02818 : 1|1 |
1|1HG02886 : 1|1 |
1|1HG03098 : 1|1 |
1|1HG03453 : 1|1 |
1|1HG03486 : 1|1 |
1|1HG03492 : 1|1 |
1|1HG03516 : 1|1 |
1|1HG03540 : 1|1 |
1|1HG03579 : 1|1 |
1|1NA18906 : 1|1 |
1|1NA20129 : 1|1 |
1|1NA21309 : 1|1 |
|
1ACMG_class : 1 AnnotSV_ranking_score : -1.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2F/4O (cf B_loss_source, -1.00): Completely contained within an established benign CNV region. 2B (cf po_P_loss_source, HI and OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 3A (1 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 305 Gene_count : 1 |
fullAnnotation_mode : full |
KIF3BGene_name : KIF3B; LOEUF_bin : 2 GnomAD_pLI : 8.4213e-02 ExAC_pLI : 2.9915e-01 HI : . TS : . DDD_HI_percent : 22.85 ExAC_cnvZ : 0.160275694917033 ExAC_delZ : -0.861533762576394 ExAC_dupZ : 0.853647510937186 ExAC_synZ : -0.691470280996355 ExAC_misZ : 3.07202873442255 Closest_left : LOC124904885 Closest_right : ASXL1 |
.Location : . CytoBand : q11.21 |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : Retinitis pigmentosa 89, 618955 (3) AD po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15124240; morbid:KIF3B po_P_loss_coord : 20:32236739-47669019; 20:32301770-32335011 po_P_loss_percent : 0.00; 0.92 |
.P_snvindel_nb : . P_snvindel_phen : . |
CMRI:0_pbsv.DEL.438_duplicate7; HPRC:pbsv.DEL[...]B_loss_source : CMRI:0_pbsv.DEL.438_duplicate7; HPRC:pbsv.DEL.2556; dbVar B_loss_coord : 20:32311424-32311729; chr20:32311424-32311729; chr20:32311424-32311729 B_loss_AFmax : 0.9854 po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : chr20:32311424-32311729 HPRC:pbsv.DEL.2556; 20:32311425-32311729 1000g; chr20:32311436-32311729 dbVar; po_B_loss_someG_coord : 20:32311424-32311729 CMRI:0_pbsv.DEL.438_duplicate7; chr20:32311424-32311729 dbVar; chr20:32311425-32311729 dbVar; chr20:32311436-32311729 gnomAD-SV_v3_DEL_chr20_c52763b3 |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:32311436-32311730 Repeat_type_left : AluYa5 Gap_left : . GC_content_left : 0.395 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:32311436-32311730; 20:32311731-32311796; 20:32311797-32312101 Repeat_type_right : AluYa5; L1ME3E; AluSq2 Gap_right : . GC_content_right : 0.410 |
CHM13,HG00438,HG00621,HG00673,HG00733,HG00735[...]Samples_ID : CHM13,HG00438,HG00621,HG00673,HG00733,HG00735,HG00741,HG01071,HG01106,HG01109,HG01123,HG01175,HG01243,HG01258,HG01358,HG01361,HG01891,HG01928,HG01952,HG01978,HG02055,HG02080,HG02109,HG02145,HG02148,HG02257,HG02486,HG02559,HG02572,HG02622,HG02630,HG02717,HG02723,HG02818,HG02886,HG03098,HG03453,HG03486,HG03492,HG03516,HG03540,HG03579,NA18906,NA20129,NA21309 |
>73351231>73351233ID : >73351231>73351233 |
TAAAGAACAGCAACGCCTGTAATCCCAGCACTTTGGGAGGCCGAG[...]REF : TAAAGAACAGCAACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAA |
TALT : T |
60QUAL : 60 |
.FILTER : . |
AC=89; AF=1; AN=89; AT=>73351231>733512[...]INFO : AC=89; AF=1; AN=89; AT=>73351231>73351232>73351233,>73351231>73351233; LV=0; NS=45; e=32311729; s=305; rC=SINE/Alu |
GTFORMAT : GT |
1CHM13 : 1 |
1|1HG00438 : 1|1 |
1|1HG00621 : 1|1 |
1|1HG00673 : 1|1 |
1|1HG00733 : 1|1 |
1|1HG00735 : 1|1 |
1|1HG00741 : 1|1 |
1|1HG01071 : 1|1 |
1|1HG01106 : 1|1 |
1|1HG01109 : 1|1 |
1|1HG01123 : 1|1 |
1|1HG01175 : 1|1 |
1|1HG01243 : 1|1 |
1|1HG01258 : 1|1 |
1|1HG01358 : 1|1 |
1|1HG01361 : 1|1 |
1|1HG01891 : 1|1 |
1|1HG01928 : 1|1 |
1|1HG01952 : 1|1 |
1|1HG01978 : 1|1 |
1|1HG02055 : 1|1 |
1|1HG02080 : 1|1 |
1|1HG02109 : 1|1 |
1|1HG02145 : 1|1 |
1|1HG02148 : 1|1 |
1|1HG02257 : 1|1 |
1|1HG02486 : 1|1 |
1|1HG02559 : 1|1 |
1|1HG02572 : 1|1 |
1|1HG02622 : 1|1 |
1|1HG02630 : 1|1 |
1|1HG02717 : 1|1 |
1|1HG02723 : 1|1 |
1|1HG02818 : 1|1 |
1|1HG02886 : 1|1 |
1|1HG03098 : 1|1 |
1|1HG03453 : 1|1 |
1|1HG03486 : 1|1 |
1|1HG03492 : 1|1 |
1|1HG03516 : 1|1 |
1|1HG03540 : 1|1 |
1|1HG03579 : 1|1 |
1|1NA18906 : 1|1 |
1|1NA20129 : 1|1 |
1|1NA21309 : 1|1 |
||
full=1ACMG_class : full=1 |
DELSV_type : DEL SV_length : 305 |
splitAnnotation_mode : split |
KIF3BGene_name : KIF3B; LOEUF_bin : 2 GnomAD_pLI : 8.4213e-02 ExAC_pLI : 2.9915e-01 HI : . TS : . DDD_HI_percent : 22.85 ACMG : . ExAC_cnvZ : 0.160275694917033 ExAC_delZ : -0.861533762576394 ExAC_dupZ : 0.853647510937186 ExAC_synZ : -0.691470280996355 ExAC_misZ : 3.07202873442255 GenCC_disease : ciliopathy; retinitis pigmentosa 89 GenCC_moi : AD GenCC_classification : Limited; Moderate; Strong GenCC_pmid : 32386558 NCBI_gene_ID : 9371 |
intron2-intron2Location : intron2-intron2 CytoBand : q11.21 Location2 : CDS Tx : NM_004798 Tx_version : 4 Tx_start : 32277650 Tx_end : 32335011 Exon_count : 9 Overlapped_tx_length : 305 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 242 Nearest_SS_type : 5' Intersect_start : 32311423 Intersect_end : 32311728 |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
CMRI:0_pbsv.DEL.438_duplicate7; HPRC:pbsv.DEL[...]B_loss_source : CMRI:0_pbsv.DEL.438_duplicate7; HPRC:pbsv.DEL.2556; dbVar B_loss_coord : 20:32311424-32311729; chr20:32311424-32311729; chr20:32311424-32311729 B_loss_AFmax : 0.9854 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
CHM13,HG00438,HG00621,HG00673,HG00733,HG00735[...]Samples_ID : CHM13,HG00438,HG00621,HG00673,HG00733,HG00735,HG00741,HG01071,HG01106,HG01109,HG01123,HG01175,HG01243,HG01258,HG01358,HG01361,HG01891,HG01928,HG01952,HG01978,HG02055,HG02080,HG02109,HG02145,HG02148,HG02257,HG02486,HG02559,HG02572,HG02622,HG02630,HG02717,HG02723,HG02818,HG02886,HG03098,HG03453,HG03486,HG03492,HG03516,HG03540,HG03579,NA18906,NA20129,NA21309 |
>73351231>73351233ID : >73351231>73351233 |
TAAAGAACAGCAACGCCTGTAATCCCAGCACTTTGGGAGGCCGAG[...]REF : TAAAGAACAGCAACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAA |
TALT : T |
60QUAL : 60 |
.FILTER : . |
AC=89; AF=1; AN=89; AT=>73351231>733512[...]INFO : AC=89; AF=1; AN=89; AT=>73351231>73351232>73351233,>73351231>73351233; LV=0; NS=45; e=32311729; s=305; rC=SINE/Alu |
GTFORMAT : GT |
1CHM13 : 1 |
1|1HG00438 : 1|1 |
1|1HG00621 : 1|1 |
1|1HG00673 : 1|1 |
1|1HG00733 : 1|1 |
1|1HG00735 : 1|1 |
1|1HG00741 : 1|1 |
1|1HG01071 : 1|1 |
1|1HG01106 : 1|1 |
1|1HG01109 : 1|1 |
1|1HG01123 : 1|1 |
1|1HG01175 : 1|1 |
1|1HG01243 : 1|1 |
1|1HG01258 : 1|1 |
1|1HG01358 : 1|1 |
1|1HG01361 : 1|1 |
1|1HG01891 : 1|1 |
1|1HG01928 : 1|1 |
1|1HG01952 : 1|1 |
1|1HG01978 : 1|1 |
1|1HG02055 : 1|1 |
1|1HG02080 : 1|1 |
1|1HG02109 : 1|1 |
1|1HG02145 : 1|1 |
1|1HG02148 : 1|1 |
1|1HG02257 : 1|1 |
1|1HG02486 : 1|1 |
1|1HG02559 : 1|1 |
1|1HG02572 : 1|1 |
1|1HG02622 : 1|1 |
1|1HG02630 : 1|1 |
1|1HG02717 : 1|1 |
1|1HG02723 : 1|1 |
1|1HG02818 : 1|1 |
1|1HG02886 : 1|1 |
1|1HG03098 : 1|1 |
1|1HG03453 : 1|1 |
1|1HG03486 : 1|1 |
1|1HG03492 : 1|1 |
1|1HG03516 : 1|1 |
1|1HG03540 : 1|1 |
1|1HG03579 : 1|1 |
1|1NA18906 : 1|1 |
1|1NA20129 : 1|1 |
1|1NA21309 : 1|1 |
||
1ACMG_class : 1 AnnotSV_ranking_score : -1.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2F/4O (cf B_loss_source, -1.00): Completely contained within an established benign CNV region. 2B (cf po_P_loss_source, HI and OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 3A (1 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 12342 Gene_count : 1 |
fullAnnotation_mode : full |
SCAPERGene_name : SCAPER; LOEUF_bin : 1 GnomAD_pLI : 8.7953e-03 ExAC_pLI : 3.9283e-02 HI : . TS : . DDD_HI_percent : 23.01 ExAC_cnvZ : 2.07042166562307 ExAC_delZ : 1.45946679873772 ExAC_dupZ : 2.10917188850421 ExAC_synZ : -1.62188988366025 ExAC_misZ : 2.12517997683526 Closest_left : MIR3713 Closest_right : RCN2 |
.Location : . CytoBand : q24.3 |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15127755; dbVar:nssv15127602; dbVar:nssv15145986; dbVar:nssv18330320; dbVar:nssv15136327 po_P_loss_coord : 15:23377380-101981189; 15:28917418-101981189; 15:70025301-78705993; 15:74061396-77592055; 15:76006155-79982417 po_P_loss_percent : 0.02; 0.02; 0.14; 0.35; 0.31 |
.P_snvindel_nb : . P_snvindel_phen : . |
CMRI:0_pbsv.DEL.745_duplicate6; DDD:45406; HP[...]B_loss_source : CMRI:0_pbsv.DEL.745_duplicate6; DDD:45406; HPRC:pbsv.DEL.3831; dbVar; dgv460e199; esv2760392; gnomAD-SV_v3_DEL_chr15_6b875bca; gnomAD-SV_v3_DEL_chr15_c4d4814a; gnomAD-SV_v3_DEL_chr15_ea8215d9 B_loss_coord : chr15:32070448-77618522; chr15:56865558-77618525; 15:76586022-76610855; 15:76591305-76605151; 15:76592255-76604597; chr15:76592255-76604597; chr15:76592255-76604597; 15:76592256-76604597; chr15:76592256-76604597 B_loss_AFmax : 0.9955 po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : chr15:56865558-77618525 gnomAD-SV_v3_DEL_chr15_c4d4814a; 15:76586953-76602899 DDD:45403; chr15:76592205-76603453 dbVar; 15:76592206-76603453 esv3636945; chr15:76592255-76604597 HPRC:pbsv.DEL.3831; 15:76592256-76604597 DDD:45406; 15:76592257-76604597 IMH; 15:76598901-76603434 esv2421572; 15:76598973-76601156 nsv514786; 15:76599388-76603421 dgv747e212 po_B_loss_someG_coord : chr15:32070448-77618522 gnomAD-SV_v3_DEL_chr15_6b875bca; 15:76586022-76610855 esv2760392; 15:76591305-76605151 dgv460e199; 15:76592206-76603453 1000g; 15:76592255-76604597 CMRI:0_pbsv.DEL.745_duplicate6; chr15:76592255-76604597 dbVar; chr15:76592256-76604597 gnomAD-SV_v3_DEL_chr15_ea8215d9; 15:76598901-76603434 DDD:45407; 15:76598901-76610855 esv2761977; 15:76599002-76602853 dgv4647n54 |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 15:76592068-76592191; 15:76592312-76592521 Repeat_type_left : (AT)n; MER58A Gap_left : . GC_content_left : 0.290 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 15:76603012-76609170 Repeat_type_right : L1PA4 Gap_right : . GC_content_right : 0.385 |
CHM13,HG00621,HG00733,HG00735,HG00741,HG01106[...]Samples_ID : CHM13,HG00621,HG00733,HG00735,HG00741,HG01106,HG01109,HG01123,HG01258,HG01361,HG01891,HG01928,HG01952,HG01978,HG02080,HG02148,HG02622,HG02717,HG03453 |
<61664381<61664612ID : <61664381<61664612 |
TTAGAAATAAAGAGGCATTTCAATTATGACTTTATGTAATTGTTA[...]REF : TTAGAAATAAAGAGGCATTTCAATTATGACTTTATGTAATTGTTAAAGCAGAGTTAGGCCAACTACAGCCCACAGCCCACTGCTCAAATAAAATGTTATTTGAATATGGTCACACAAATTGATTTATGTATTCTCTGTGACTCCCTTATGCTACAAAGATAGACAGTTGAATAAGTGAGACTCACAAAGCCTAAAATATAGACCCTCACTTTAGGCCCACAAACCCTAAAATATTTACAACCTGGTCCTTTCTAAAAAAATGTTTGGTGGCTGGCAAGATGGCCAAAAGGAACAGCTCCATTCTGCAGCTCCCAGCGAGATCAACGCAGAAGGCAGGTGATTTCTGCATTTCCAACTGAGGTACCTGGCTCATCTCACTGGGACTGGTTAGACAGTGGGCGCAGCCCATGGAGGGTCAGCCAAAGCAGGGTGAGGTGTTGCCTCACCTGGGACGCGCAAGGGTTTGGGGAACTCCCTCCCCTAGCCAAGGGAAGCCTTGAGGGACTGTGCCTTGAGGAATGGTGCACTCCAGCCCAGATACTATGCTTTTCCTAAGGTCTTTGCAACCCGCAGACCAGGAGATTCCCTTGGGTGCCTATGCCACCAGGGCCCTGGGTTTCAAGCACAAAACTGGGTGGACTTTTGGGCAGACACCGAGCTAGCTGCAGGAGTATTTTTTTATACCCCAGTGGCACCTGGAACACCACCGAGACAGAACCATTCATTACCCTGGAAAGGGGGCTGAAGCCAGGGAGCGAACTCGTCTTGCTCAGCAGATCCCACCCCCACAGAGGCCAGCAAGCTAATATCCACTGGCTTGAAATTCTTGCTGCCAGCACAGCAGTCTGAAGTCGACCTGGGAAGCTTGAGCTTGGTGTGGGGAGGGGTGCCTGCCATTACTGAGGCTTGCGTAGGCAATTTTCCCCTCACAGGGTAAACAAAGCCACTGGGAAGTTCGAGCTGGGTGGAGGCATCATAGCTCCGCAAAGCTGCTATAGCCAGACTGCCTCTCTAGACTCCTCCTCTCTGGCCAGGGCATATCTGAAAGAAAGGCAGCAGCCCCAGTCAGGGGCTTATAGATAAAACTCCCATCTCCCTGGGGCAGAGCACCTGGGGGAAGGGGCGGCTGTGGGCACAGCTTCAGGAGACTTAAACATTCCAGCCTGCTGACTCTGAAGAGAGCAGCGGATCTCCTAGCACAGTGCTCGAGCTCAAATAAAGGACAGACTGCCACCTCAAGTGGGTCCCTGATCCCCATGCCTCCTGACTGGGAGACACCTCCCAGCAAGGGGTCAACAAACACCTCATACGGGAGAGCTCTGGCTGGGATCTGGTGGGTGCCCCTCTGAGACAAAGCCTCCAGAGGAAAAAACAGACAGCAATCTTTGCTGTTCTGCAGCATCCACTGGTGATACCGAGGCAAACAGGATCTGGAGTGGACCTCCAGCAAACTCCAGCAGACCTGAAGTACAGGGGCCTGATTGTTAGAAGAAAAACTGACAGACAGAAAGGAATAGCATCAACAGCAACAAAAAGGACATCCACACAGAAACCCCATCCGAAGGTCACCAACATCAAAGACCAAAGGTAGATAAATCCAGGAAGATGAGGAAAAACCAGCACAAAAAGGCTGAAAATTCCAAACACCAGAAGGCCTCTTCTCCTCCAAAGGATCACAGCTCCTTGCCAGCAAGGGAATAAAACTGGATGGAGAATGAGTTTGACAAATTAACAGAAGTAGGCTTCAGAAGGTGGGTAATAACAAACTCCTCTGAGCTAAAGGAGCATGATATAACCGAATGCAAGGAAGCTAAGAACCTTGAAAAAAGGTTAGAGGAATTGCTAACTAGAATAACCAGTTTAGAGAAGAACATAAATGATCTGATGGAGCTGAAAAACACAACACGAGAACTTCGTGAAGCATACACAAGGATCAATAGCTGAATCAACCAAGCGGAAGAAAGGATATCAGAGACTGAAGATCAACTTAATGATATAAAGCATGAAGACAAGATTAGAGAAAAAAGAATAGAAAGGAATGAACAAAGCCCCCAAGAAATACGGGAATATGTGAAAAGAACACAACTACGTTTGATTGGTGTGCCTGAAAGTGACTGGGAGAATGGAACCAAGTTGGAAAACACTCTGCAGGATATTATCCAGGAGAACTTCCCCAACCTAGCAAGAAAGGCCAACACTGAAATTCAGGAATTACAGAGAATGCCCCAGAGATACTCCTCGAGAAGAGCAACCCCAAGACACATAATCATCAGATTCACCAAGGTTGAAATGAAGGAAAACATGTTAAGGGCAGCCAGAGAGAAAGGTCGGGTTATCCACAAAGGGAAGCCCATCAGACTAACAGCGGATCTCTCTGCAGAAACTCTACAAGCCAGAAGAGAGTAGGGGCCAATACTCAACATTATTAAAGAAAAGAATTTTCAACCCAGAATTTCAAATCCAGCCAAATTAAGCTTCATAAGCAAAGGAGAAATAAAATCCTTTACAGACAAGTAAATGCTGAGCGATTTTGTCACCACCAGGCCTGCCTTACAAGAGCTCCTGAAGGAAGAACTAAATATGGAAAGGAACAACCGGTACCAGCCACTGCAAAAACATATTAAACTGTAAAGACCATCAACACTACGAAGAAATTGAATCAACTAACCGGCAAGACAACCAGCTAGAATAATAATGACAGGATGAAATTCACACATAACAATATTAACCTTAAACGTAAATGGGCTAAATGCCCTAATTAGAAGACACAGACTGGCAAATTGGATAAAGAGTCAAGAACCATTAGTGTGCTGTATTCAGGAGGCCCATCTCACAAGCAAAGACAAAAATAGGCACAAAATAAAGGGATGGAGGAAGATCCATGAAGCAAATGAAAAGCAAAAGAAAAGCAGGGGTTGCAGTCCTAGTCTCTGATAAAACAGACCTTTAGCCAACAAAGATCAAAAGAGACAAAGAAGGGCATTACATAATGGTAAAGGGATCAATGCAACAAGAAGAGTTAACTATCCTAAATATATACGGACCCAGATACATAAAGCAAGTTCTTAGAGACGTACAAAGAGACTTAGACCCCCATACAATAATAGTGGGAGACTTTAACACCCCACTGTCAATATTAGACAGATCAACGAGGCAGAAAATTAACAAGGATATTCAGGACTTGAACTTGGCTCTGGACTAAGTGGACCAAATAGACATCTACAGAACTCTCCACCCCAAATCAATAGAATATACATTCTTCTCAGTACCACATCGCATTTATTCTAAAATTGACCACATAATTGGAAATAAAACACTCCTCAGCAAATGCAAAAGAACAGAAATCATAACAAACAGTCTCTCAGACCACAGCACAACCAAATTAGAACTCAGGATTAAGAAACTCACTCAAAACTGCACAACTACATGGAAACTGAACAAACTGCTCCTGAATGACTACTGGTTACATAACAAAATTAAGGCAGAAATAATAAGTTCTTTGAAACCAATGGGAAGAAATACAAAATGTTCCAGAATCTCTGGGACACTGCCAAAGCAGAGTTTAGAGGGAAATTTATAGCACTAAATGCCCACAGGAGAAAGCAGGAAAGATCTAAAATCAACACCCTAACATCACAATTAGAAGAACTGAGAAGCAAGAGCAAACAAATTCAAAAGCTAGCAGAAGAAATAACTAGGATCAGAGCAGAACTGAAGGAGATACAGACACGAAAAACCCTTCAAAAAATCAGTGAATCCAGGAGCTGGTTTTTTGAAAAGATTAACAACATAGATGGACCACTAGCCAGACTAATAAAGAAGAAAAGAGAGAAGAATCAAATAGGCACAATAAACAATGACAAAGAAAAGATCACCACTTATCCCACAGAAATACAAACTACCATCAGAGAATACTATAAACACCTCTATGCAAATAAACTAGAAAATCTAGAAGAAATGGATAACTTCCTGGACACATACAGCCTCCCAAGATGAAACCAGGAAGAAGAATCCCTGAACAGACCAATAAGAAGTTCTGAAATTGAGGCAGTAATTAATAGCCTACCAACCAAAAAAAAAAAAAAAAGCCCAGGACCAGATGGATTCATAGCCAAATTCTACCAGAGGTACAAAGAGGAACTGGTACCATTCCTTTTAAAACTACTTCAAACAATAGAAAAAGACGGACTCCTCCCTAACTCATTTTATGAGGCCAGCATCATCCTGATACCAAAACTCAGCAGAGACACAACAAAAAAAGAAAATTTCAGGCCAATATCCCTGTTGAACACCGATGTGAAAATCCTCAATAAAATACTGGCAAACCAAATCTGGCAGCACATTAAAAAGCTTATCTACCATGATCAAGTCGGCTTCATCCCTGGGATGCAAGGCTGGTTCAACATACACAAATCAATACTATCCATCACATAAACAGAACCAACGAGAAAAACCACAAGATTATCTCAATAGATGCAGAAAAGGCCTTCGATAAAATTCAAAACCCTTCATGCTAAAAACTCTCAATAAAGTAGGTATTGATGGAATGTATCTCAAAATAATAAGAGCTATTTATGACAAACCCACAGCCAACATCATACTGAATGGGCAAAAGCTGGAAGCATTCCCTCTGAAAACCGGCAAAGACAAGGATGCCCTCTCTCACCACTCCTATTCAACATAGTATTGGAAGTTCTGGCCAGGACAATCAGGCAAGAGAAAGAAATAAAGAGTATTCAAATAGGAAGAGAGGAAGTCAAATTGTCTCTGTTTATAGATGACATGACTGTATATTTAGAAAACCCCATCGTCTAAGCCCCAAATCTCCTTAAGCTGATAAGCAACTTCAGCAAAGTCTCAGGATATAAAATCAGTGTGCAAAAATCACAAGCATTCCTATACACCAATAATGGACAGAGAGTCAAATCATGAGTGAACTCCCATTCACAATTGCTACAAAGAGAATAAAATACCTAGCAAAACAACTTACACGGGATGTGAAGGACCTCTTCAAGGAGAACTACAAACCACTACTCCACAAAATAAAAGAGGACACAAACAAATGAAAAACATTCCATGCTAATGGATAGGAAGAATCAAATCATGAAAATGGCCACACTGCCAAAAGTAATTTACAGATTCAGTGGTATCCCCATCAACCTACCATTGACTTTCTTCACAGAATTAGAAAAAACTACTTTAAATTTCATATGGAACCAAAAAAGAGCCTGTACAGCCAAGAGAATCCTAAGCAAAAAGAACAAAGCTGGAGGCATCACACTACCTGACTTCAAACTATACAAGGCTACAGTAACCAAAACAGCATGGTACTAGTACCAAAACAGATATATAGACCAACAGAACAGAACAGAGCCCTCAGAAATAATGCCACACATCTACAACCATCTGATCTTTGACAAACCTGACAAAAACAAGAAATAGGGAAAGGATTCCCTATTTAATTAATGGTGTTGAGAAAACTGGCTAGCCATATGTAGAGAACTGAAATTGGACCCCTTCCTTACACCTTACACAAAAATTAACTCATGATGGATTAAAGACTTAAACATAAGGCCTAAAATCATAAAAACCCTAGAAGAAAACCTAGGCAATACCATTCAGGACATAGGCATGGGCAAAGACTTCATGACTAAAATATCAAAAGCTATGGCAATAAAAGACAAAATTGACAAATGAGATGTAATTAAACTAAAGAGCTTCTGCATAGCAGAAGAAACTATCAACAGAGTGAACAGGGAACCTACAGAATGGGAGAAAATTTTTGCAATCTATCCATCTGACAAAGGGCTAATATCCAGAATCTACAAGGAACTTAAAACAAATGTACAAGAAAAAAAAAACAACCCCATCAAAAAGTGGGTGATGGATATGAACAGACACTTCTCAAAAGAAGACATTTATGCGGCCAACAAACATGAAAAAAGGCTCATCATCAATGGTCATTAAAGAAATGCAAATCAAAACCACAATGAGATACCGTCTCACGCCAGTTAGAATGGTGACCATTAAAAAGTCAGGAAACAACGAATGCTAGAGGGGATGTGGAGAAATAGGAACACTTTTTACACTGTTGGTGACAGTGTAAATTAGTTCAACCATTGTGGAAGACAGTGTGGCAATTTCTCAAAGATGTAGAACTAGAAATGCCATTTGACCCAGCAATCCCATCACTGGGTACATACCCAAAGGATTATAAATCATTCTACTATAAAGACACATGCACACGTATGTTTATTGCAGCACTTTTCACAATAGCAAAGACTTGGAACCAACCCAAATGCCCATCAATGATAGACTGGATAAAGAAAATGTGGCATATATACACCATGGAATACTATATAGCCATAAAAAAGGATGAGTTCATGTCCTTTACAGGGACATAGATGAAGCTGGAAACCGTCATTCTCTGCAAACTAACACAGGAACAGAAAACCAAACACCACATGTTCTCACTCATAAGTGGGAGGTGAACAATGAGAACACGTGGACACAGGGAAGGAAACATCACACACCGGGGCCTGTTGGGGTTAGGGGGATAGAGGAGGGATAGCATTAGGAGAACTACCTAATGTAGATGACGGGTTGATGGGTGCAGCATGGCACATGTATACCTACGTAACCTGTATGTTCTGCACATTTATCCCAGAAATTAAAGTATAATTAAAAAAAAAAAACTTTTGCCAGGACCCAGTTTCTAGCGGTAATAAAATGAATATGTATTAAGCATAAGGTTACCTGCTAGATTTTAAAAAAATAATAAAAATATACACAAGTATATAGATATCTACAATTCAATAATAAAAAAAGATAATTCACCAAAAATGGCAAAATATCTGAATAGACACTTGCCATAAGAAGAAATAAATGGCTTATACATACATGAGAGGACACTCAACACCATTAGGATTATCATGGAAACTCTAAATAAAATTTAAAAATGCCACTACATACCCATCTGAATGCCTAAAATTAAAAAGATTGACAACGTCAAATATTACCAAGGATATGAAACAGGAACTCTCACACATTGTTGGAAAGTAGGTAAAATGGTAATAATACTTTGAAAAAACGGTCTCGTGGTTTCTTATAAACCTAAACATACACATATCAAAGGACTTTGCACATTCATGCCTAGGTGTTCACCCAATAGAAATGAAAACTTATATCCAAAATTTATTTCCAAAAAGTAGAAAGAGCCCAAGTATCCATCATTAGTGGAATACACAAACAAATCAAGGCTACATTTACTCATAGGAGTACTGTCCAGCAATAAAAAGGAATGAATTGATAAACACAACATGGGTGAAACACAAAAACATGCTGAATGAAAGAAGGCTTATACAAAAGAGTACATACTATTTGATTTCATTTATAGCAAGCTCTACAACAGATGATTCTCATCTGTGGTGAAAGACAAGCTCTACAACAGGTGATTCTAATCAGTGATGAAAGAAAATCAGAATAGTGGTTGCCTCTTGGGTGGGAGTAAAGGGATTCACCAAGGACATATAATAACCTTCTGGGATGATGATACTGTGCAAATTTTGAGAGGTGTTTAAAATACTCAGTGTCTGCATTTGTCAAAATTTATCAAATGTCACCCTTAAGATCTGCGCATTTTGTTACATGTAAATTTTACCTCAAAACAAACACACAAACAAGGATAAATAATGAACTTGAGTTAATAACATGCATGTTGAAATACTGGAGGAGGAATATACTGATGTATGCAATTTACTTTCATGCATCAAAATCTGATGGATTGATAATGGATAAAGGGATGGAAAGATGAATAAATGTGATTAAGTATAGTAAATAATTACAGAATATATGTAGAGGATACATAAGTTTCCACAGTAAAATTCTTTCCAACTTTTCTGAATTTTTGAAAAATTTCATGCTAGAAAAACTACAGAAATATCTATTATGATATTCACACTTTGTACCAAACAGATAACATACTTTTCAAAAAATAAGGAATAGTTACAATTAGTAAACTGTATTAAAAAAGAAGATCCCAAATCCCAAAGGCAGAAATCACTGAACAACATATAAACTTAAAATTAAGCAAAACTAATAGAAAAATAGCATACTTGGAAAGTGTGTGTATATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATACATATACATATATATATATATTTTTTTTTTTTTGAGATGAAGTCTCGCTCTTGTCACCCAGGCTGGAGTGCAATGGCACCATCTCTACCCACTGCAACCTCCGCCTCCCAGGTTCAAGCAATTATCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCTGTCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCCCCATTTTGGCCATACTGGTCTTGAACTCCTGACCTCAGACGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCCCACCCAGAAAGTATTTTTTTAAAATAATTCTAAATCACTCTTGGATTCAGAATAAAATACCAATTATGTGGAGATGAATAAAAACAAAAACACTCTCTATGAAAACACAGTAAGAAGGATAAAAGAAGAAATGAAGTCAAAGTGAAAACAAAACAGAAAACAAAAAGATCGAATCTATACATTTTAAAGCAATTTTTGGAAAGGACCAATAAAAAACAACCTCTGAAAAGTTTACTCAAAAAACAACAACAGAAGAAATTTCTAATACTAGCAACAAAAACCGAAGAAAAAATGTATTGAGAATTAAAGAAAATGTTAATGTGGATACACAGAATAGAAATTGAAAATTATGCTTTTTATTTAAAAAGTAATGGTAGTAGACAATATTCTAAAATAAGAATAATGGTGTTCTATCATGAATGGGTGATGGATGTTGTCAAACATTTTTTCTCCATCTAATGATACGTATGTGAGTTTTCTTATTTAGCCTGGTTATTTGATGGTTTTAAATTAGCAATTTATATGATTACATATTCTCTCCTTTCTTAGCACATCAATTACAGTCATATGCTGTATAAGGATGTTTCAGTCAATGACAGACTGCATATATGACAGTGGTCCCAAAAGATTATAATACTGCATTTTTACTGTATCTTTCCTATGTTTAGTTATGTTTAAATACACAAATATTTATCATTTTGTTACAATTGCCTGTAGTATTCATTACAGTAACATGGCATACATGTTTGTAGCCTAAGAGCTATAGGCCATATCATATAGCTTAAATGTATAGTAGGCTACACCATCTGGGTTTGTGTATGTATACTCTGATGTTCAAACAATGATGAAATTGCCTAAGGACACATCTCTCAGAACATATTTTCATTGTTAAGTGATGTATGACTGTATATTTCTTATTTTTAGTAGTTGCAAACTAAAAGTTTGCAGTATAGATTTATAATTATTCCAAGTCCAGTTTCAAATAATGCTATACTGCTTCACAGGTAGTGCTGTGAAATACCTTATAATAACAAAATATTCCTCATTTTTCCTTCCTATCCCTTCTATCACTGCTGTCATTCATTTCACATAGAAATAAATATACAGTCATCCCTTGGTATATGTGTGAGATTGGTTCCAGGAACCCCATGTAAAGCAAAATCTGCACATATTCAAGTCCTGCAGTCGGCCCCTTGGAATCTGCAAATACGAAAAGTCAGCCCTCCATATCCATGAGTTTTATATCCTGAGAATACTACATTTTCAATCCGTGTTTGGTTGAAAACATCTGCATATCATTGGGCTTGGGTAGTTCAAACCCATGCTGTCTAAGGGTCAACTGTACATACACACATAAGCATACATAATAGAAAACACTGTTGCTATTATTATTTTGAACAAACTGTTATCTGTTAAATTAACAATAAGAAAAATGTTATTTTATCTATGTTTATTCGTTCTTCAAAATTATTCCTTTTGTTATACAGATCTGAGTTTCTGATCTGTATCATTTAACTTCTCTCTGAAGAACTTCTTTTAACATTTCCTGCAAGGCAAGTCTAATAGCAACAATTCCCTCAATTTAGTTTATCTGAAAAAGTTTTTATTTCTTCATTTTTGAAGTATAACTTTGCACAGTACAGAATTCTAGGTTGGTGAGTTTTTTTCTAATCTTTGCTCCCATATAGGTAAGGTGTTTCTTTCCCCTTTGGTCTTTCAGGATTTTTCATTTCTCTTTGATTTACTGCAATTTGAATATCATACGCTCACAGGTAGAATTTTTTGTTTTTGTTTTTTGGGGGAAGCATTTATCTTGCTTGGTATTCTCCTATTCTCTAAACTTCCTGGATCTAGGATTTGGTGTCTGTCACTAATTTGGGGAAAATTCTCAGTCATGATTGTTTCAAATACTGCTTTTGTTCCTCCTCACTTTCTTTTCCCTTCTGGTATCCCAATTACATGTACGTTATACCTTTTTGCAGTTGTCCCACAGTTTCAGATATTCTGTTCACTTTCTCCCCAGTCTTCTTTAAATTGTTTTTCAATTTTGGAAGTTACTATTGTCATATCCTCAAGCTGAGATTATTTCCTCAGCTATCTGGTCTACTAATCAGCCTATCAATAGCACTGTTCACTTTTGTTACCATGTTTTCAAATTCTGGCATTTCTTTTTTTTTTTTTTAATTTGAGCTCATTTATTGGTTCAGAATTTACTAAGACAGCAAGAAAACTTTTTTTTTTTTTTTGGTTTGGATCCTCAATAGTTTTTATTTTATTTATTTATTTACTTAATTTTATTATTATTATACTTTAAGTTTTAGGGTACATGTGCACAACGTGCAGGTTAGTTACATATGTATACATGTGCCACGTTGGTGTGCTGCACCCATTAACTCGTCATTTAGCATTAGGTATATCTCCTAATGATATCCCTCCCCCTTCCTCCCACCCCACAACAGTCCCCAGAGTGTGATGTTCCCCTTCCTGTGTCCATGTGTTCTCATTGTTCAATTCCCACCTATGAGCGAGAACATGCGGTGTTTTTTTGTCCTTGCGATAGTTTGCTGAGAATGATGATTTCCAATTTCATCCATGTCCCTACAAAGGACATGAACTCATCATTTTTTATGGCTGCATAGTATTCCATGGTGTATATGTGCCACGTTTTCTTAATCCAGTCTATGGTTCTTGGACATTTAGGTTGGTTCCAAGTCTTTGCTATTGTGAATAGTGCTGCTATAAACATATGTGTGCATGTGTCTTTACAGCAGCATGATTTATAATCCTTTGGGTATGTACCCAGTGATGGGATGGCTGGGTCAAATGGTTTTCTAGTTCTAGATCCCTGAGGAATCACCACACTGACTTCCACAATGGTTGAACTAGTTTGCAGTCCCACTCACAGTGTAAAAGTGTTCCTATTTCTCCACATCCTCTCCAGCACCTGTTGTTTCCTGACTTTTTAATGATCGCCATTCTAACTGGTGTGAGATGGTATCTCATTGTGGTTTTGATTTGCATTTCTCTGATGGACAGTGATGATGAGCATTTTTTCATGTGTCTGTTGGCTGCATAAATGTCTTCTTTTGAGAAGTATCTGTTCATATCCTTTGCCCACTTTTTGATGGGGTTGTTTTTTTTCTTGTAAATTTGAGTTCATTGTAGATTCTGGATATTAGCCCTTTGTCAGATGAGTAGGTTGCAAAAATCTTCTCCCATTCTGTAGGTTGCCTGTTCAGTCTGATGGTAGTTTCTTTTGCTGTGCAGAAGCTCTTTAGTTTAATTAGATCCCATTTGTCAATTTTGGCTTTTGTTGCCATTGCTTTTGGTGTTTTAGACATGAAGTCCTTGCCCATGCCTATGTCCTGAATGGTATTGCCTAGGTTTTCTTCTAGGGTTTTTATGGTTTTAGGTCTAACCTTTAAGTCTTTAATCCATCTTGAATTAATTTTTGTATAAGGTGTAAGGAAGGGATCCAGTTTCAGCTTTCTACATATGGCTAGCCAGTTTGCCCAGCACCATTTATTAAATAGGGAATCCTTTCCCTATTGCTTGTTTTTGTCAGGTTTGTCAAAGATCAGATAGCTGTAGATATGCGGCATTATTTCTGAGGGCTCTGTTCTGTTCCATTGGTCTATATCTCTGTTTCGGTACCAGTACCATGCTGTTTTGGTTACTGTAGCCTTGTAGTATAGTTTGAAGTCAGGTAAGCGGGATGCCTCCAGCTTCGTTCTTTTGCCTTAGGATTGACTTGGCGATGCGGGCTCTTTTTTGGTTCCATATGAACTTTAAAGTAGTTTTTTCTGATTCTGTGAAGAAAGTCATTGGTAGCTTGATGGGGATGGCATTGAAT |
TALT : T |
60QUAL : 60 |
.FILTER : . |
AC=21; AF=0.235955; AN=89; AT=>61664612>[...]INFO : AC=21; AF=0.235955; AN=89; AT=>61664612>61664611>61664610>61664608>61664607>61664605>61664604>61664602>61664601>61664599>61664598>61664596>61664595>61664593>61664592>61664590>61664589>61664587>61664586>61664584>61664583>61664581>61664580>61664578>61664577>61664575>61664574>61664572>61664570>61664569>61664566>61664565>61664563>61664562>61664560>61664559>61664557>61664556>61664554>61664553>61664551>61664550>61664548>61664547>61664545>61664544>61664542>61664540>61664539>61664537>61664536>61664534>61664533>61664531>61664530>61664528>61664527>61664526>61664525>61664523>61664522>61664520>61664519>61664517>61664516>61664514>61664513>61664511>61664510>61664508>61664507>61664505>61664504>61664503>61664502>61664500>61664499>61664497>61664496>61664495>61664494>61664492>61664490>61664487>61664485>61664484>61664482>61664481>61664479>61664478>61664476>61664475>61664473>61664472>61664470>61664469>61664467>61664465>61664464>61664463>61664462>61664460>61664459>61664457>61664456>61664454>61664453>61664451>61664450>61664448>61664447>61664445>61664444>61664443>61664442>61664440>61664439>61664437>61664436>61664434>61664433>61664429>61664428>61664426>61664425>61664423>61664422>61664420>61664419>61664417>61664416>61664414>61664413>61664411>61664410>61664408>61664407>61664405>61664404>61664402>61664401>61664399>61664398>61664396>61664395>61664393>61664392>61664390>61664389>61664387>61664386>61664385>61664384>61664382>61664381,>61664612>61664381; LV=0; NS=45; e=76604598; s=12347; rC=LINE/L1 |
GTFORMAT : GT |
1CHM13 : 1 |
0|0HG00438 : 0|0 |
1|0HG00621 : 1|0 |
0|0HG00673 : 0|0 |
0|1HG00733 : 0|1 |
0|1HG00735 : 0|1 |
1|0HG00741 : 1|0 |
0|0HG01071 : 0|0 |
0|1HG01106 : 0|1 |
1|0HG01109 : 1|0 |
0|1HG01123 : 0|1 |
0|0HG01175 : 0|0 |
0|0HG01243 : 0|0 |
1|0HG01258 : 1|0 |
0|0HG01358 : 0|0 |
0|1HG01361 : 0|1 |
1|0HG01891 : 1|0 |
0|1HG01928 : 0|1 |
1|1HG01952 : 1|1 |
0|1HG01978 : 0|1 |
0|0HG02055 : 0|0 |
0|1HG02080 : 0|1 |
0|0HG02109 : 0|0 |
0|0HG02145 : 0|0 |
1|1HG02148 : 1|1 |
0|0HG02257 : 0|0 |
0|0HG02486 : 0|0 |
0|0HG02559 : 0|0 |
0|0HG02572 : 0|0 |
0|1HG02622 : 0|1 |
0|0HG02630 : 0|0 |
0|1HG02717 : 0|1 |
0|0HG02723 : 0|0 |
0|0HG02818 : 0|0 |
0|0HG02886 : 0|0 |
0|0HG03098 : 0|0 |
1|0HG03453 : 1|0 |
0|0HG03486 : 0|0 |
0|0HG03492 : 0|0 |
0|0HG03516 : 0|0 |
0|0HG03540 : 0|0 |
0|0HG03579 : 0|0 |
0|0NA18906 : 0|0 |
0|0NA20129 : 0|0 |
0|0NA21309 : 0|0 |
||
full=1ACMG_class : full=1 |
DELSV_type : DEL SV_length : 12342 |
splitAnnotation_mode : split |
SCAPERGene_name : SCAPER; LOEUF_bin : 1 GnomAD_pLI : 8.7953e-03 ExAC_pLI : 3.9283e-02 HI : . TS : . DDD_HI_percent : 23.01 ACMG : . ExAC_cnvZ : 2.07042166562307 ExAC_delZ : 1.45946679873772 ExAC_dupZ : 2.10917188850421 ExAC_synZ : -1.62188988366025 ExAC_misZ : 2.12517997683526 GenCC_disease : Bardet-Biedl syndrome; intellectual developmental disorder and retinitis pigmentosa; IDDRP; retinitis pigmentosa GenCC_moi : AD; AR GenCC_classification : Moderate; Strong; Supportive GenCC_pmid : 28794130; 28794130[PMID]; 30723319[PMID] NCBI_gene_ID : 49855 |
intron7-intron7Location : intron7-intron7 CytoBand : q24.3 Location2 : CDS Tx : XM_047432633 Tx_version : 1 Tx_start : 76347903 Tx_end : 76732242 Exon_count : 17 Overlapped_tx_length : 12342 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 17166 Nearest_SS_type : 5' Intersect_start : 76592255 Intersect_end : 76604597 |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
CMRI:0_pbsv.DEL.745_duplicate6; DDD:45406; HP[...]B_loss_source : CMRI:0_pbsv.DEL.745_duplicate6; DDD:45406; HPRC:pbsv.DEL.3831; dbVar; dgv460e199; esv2760392; gnomAD-SV_v3_DEL_chr15_6b875bca; gnomAD-SV_v3_DEL_chr15_c4d4814a; gnomAD-SV_v3_DEL_chr15_ea8215d9 B_loss_coord : chr15:32070448-77618522; chr15:56865558-77618525; 15:76586022-76610855; 15:76591305-76605151; 15:76592255-76604597; chr15:76592255-76604597; chr15:76592255-76604597; 15:76592256-76604597; chr15:76592256-76604597 B_loss_AFmax : 0.9955 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
CHM13,HG00621,HG00733,HG00735,HG00741,HG01106[...]Samples_ID : CHM13,HG00621,HG00733,HG00735,HG00741,HG01106,HG01109,HG01123,HG01258,HG01361,HG01891,HG01928,HG01952,HG01978,HG02080,HG02148,HG02622,HG02717,HG03453 |
<61664381<61664612ID : <61664381<61664612 |
TTAGAAATAAAGAGGCATTTCAATTATGACTTTATGTAATTGTTA[...]REF : TTAGAAATAAAGAGGCATTTCAATTATGACTTTATGTAATTGTTAAAGCAGAGTTAGGCCAACTACAGCCCACAGCCCACTGCTCAAATAAAATGTTATTTGAATATGGTCACACAAATTGATTTATGTATTCTCTGTGACTCCCTTATGCTACAAAGATAGACAGTTGAATAAGTGAGACTCACAAAGCCTAAAATATAGACCCTCACTTTAGGCCCACAAACCCTAAAATATTTACAACCTGGTCCTTTCTAAAAAAATGTTTGGTGGCTGGCAAGATGGCCAAAAGGAACAGCTCCATTCTGCAGCTCCCAGCGAGATCAACGCAGAAGGCAGGTGATTTCTGCATTTCCAACTGAGGTACCTGGCTCATCTCACTGGGACTGGTTAGACAGTGGGCGCAGCCCATGGAGGGTCAGCCAAAGCAGGGTGAGGTGTTGCCTCACCTGGGACGCGCAAGGGTTTGGGGAACTCCCTCCCCTAGCCAAGGGAAGCCTTGAGGGACTGTGCCTTGAGGAATGGTGCACTCCAGCCCAGATACTATGCTTTTCCTAAGGTCTTTGCAACCCGCAGACCAGGAGATTCCCTTGGGTGCCTATGCCACCAGGGCCCTGGGTTTCAAGCACAAAACTGGGTGGACTTTTGGGCAGACACCGAGCTAGCTGCAGGAGTATTTTTTTATACCCCAGTGGCACCTGGAACACCACCGAGACAGAACCATTCATTACCCTGGAAAGGGGGCTGAAGCCAGGGAGCGAACTCGTCTTGCTCAGCAGATCCCACCCCCACAGAGGCCAGCAAGCTAATATCCACTGGCTTGAAATTCTTGCTGCCAGCACAGCAGTCTGAAGTCGACCTGGGAAGCTTGAGCTTGGTGTGGGGAGGGGTGCCTGCCATTACTGAGGCTTGCGTAGGCAATTTTCCCCTCACAGGGTAAACAAAGCCACTGGGAAGTTCGAGCTGGGTGGAGGCATCATAGCTCCGCAAAGCTGCTATAGCCAGACTGCCTCTCTAGACTCCTCCTCTCTGGCCAGGGCATATCTGAAAGAAAGGCAGCAGCCCCAGTCAGGGGCTTATAGATAAAACTCCCATCTCCCTGGGGCAGAGCACCTGGGGGAAGGGGCGGCTGTGGGCACAGCTTCAGGAGACTTAAACATTCCAGCCTGCTGACTCTGAAGAGAGCAGCGGATCTCCTAGCACAGTGCTCGAGCTCAAATAAAGGACAGACTGCCACCTCAAGTGGGTCCCTGATCCCCATGCCTCCTGACTGGGAGACACCTCCCAGCAAGGGGTCAACAAACACCTCATACGGGAGAGCTCTGGCTGGGATCTGGTGGGTGCCCCTCTGAGACAAAGCCTCCAGAGGAAAAAACAGACAGCAATCTTTGCTGTTCTGCAGCATCCACTGGTGATACCGAGGCAAACAGGATCTGGAGTGGACCTCCAGCAAACTCCAGCAGACCTGAAGTACAGGGGCCTGATTGTTAGAAGAAAAACTGACAGACAGAAAGGAATAGCATCAACAGCAACAAAAAGGACATCCACACAGAAACCCCATCCGAAGGTCACCAACATCAAAGACCAAAGGTAGATAAATCCAGGAAGATGAGGAAAAACCAGCACAAAAAGGCTGAAAATTCCAAACACCAGAAGGCCTCTTCTCCTCCAAAGGATCACAGCTCCTTGCCAGCAAGGGAATAAAACTGGATGGAGAATGAGTTTGACAAATTAACAGAAGTAGGCTTCAGAAGGTGGGTAATAACAAACTCCTCTGAGCTAAAGGAGCATGATATAACCGAATGCAAGGAAGCTAAGAACCTTGAAAAAAGGTTAGAGGAATTGCTAACTAGAATAACCAGTTTAGAGAAGAACATAAATGATCTGATGGAGCTGAAAAACACAACACGAGAACTTCGTGAAGCATACACAAGGATCAATAGCTGAATCAACCAAGCGGAAGAAAGGATATCAGAGACTGAAGATCAACTTAATGATATAAAGCATGAAGACAAGATTAGAGAAAAAAGAATAGAAAGGAATGAACAAAGCCCCCAAGAAATACGGGAATATGTGAAAAGAACACAACTACGTTTGATTGGTGTGCCTGAAAGTGACTGGGAGAATGGAACCAAGTTGGAAAACACTCTGCAGGATATTATCCAGGAGAACTTCCCCAACCTAGCAAGAAAGGCCAACACTGAAATTCAGGAATTACAGAGAATGCCCCAGAGATACTCCTCGAGAAGAGCAACCCCAAGACACATAATCATCAGATTCACCAAGGTTGAAATGAAGGAAAACATGTTAAGGGCAGCCAGAGAGAAAGGTCGGGTTATCCACAAAGGGAAGCCCATCAGACTAACAGCGGATCTCTCTGCAGAAACTCTACAAGCCAGAAGAGAGTAGGGGCCAATACTCAACATTATTAAAGAAAAGAATTTTCAACCCAGAATTTCAAATCCAGCCAAATTAAGCTTCATAAGCAAAGGAGAAATAAAATCCTTTACAGACAAGTAAATGCTGAGCGATTTTGTCACCACCAGGCCTGCCTTACAAGAGCTCCTGAAGGAAGAACTAAATATGGAAAGGAACAACCGGTACCAGCCACTGCAAAAACATATTAAACTGTAAAGACCATCAACACTACGAAGAAATTGAATCAACTAACCGGCAAGACAACCAGCTAGAATAATAATGACAGGATGAAATTCACACATAACAATATTAACCTTAAACGTAAATGGGCTAAATGCCCTAATTAGAAGACACAGACTGGCAAATTGGATAAAGAGTCAAGAACCATTAGTGTGCTGTATTCAGGAGGCCCATCTCACAAGCAAAGACAAAAATAGGCACAAAATAAAGGGATGGAGGAAGATCCATGAAGCAAATGAAAAGCAAAAGAAAAGCAGGGGTTGCAGTCCTAGTCTCTGATAAAACAGACCTTTAGCCAACAAAGATCAAAAGAGACAAAGAAGGGCATTACATAATGGTAAAGGGATCAATGCAACAAGAAGAGTTAACTATCCTAAATATATACGGACCCAGATACATAAAGCAAGTTCTTAGAGACGTACAAAGAGACTTAGACCCCCATACAATAATAGTGGGAGACTTTAACACCCCACTGTCAATATTAGACAGATCAACGAGGCAGAAAATTAACAAGGATATTCAGGACTTGAACTTGGCTCTGGACTAAGTGGACCAAATAGACATCTACAGAACTCTCCACCCCAAATCAATAGAATATACATTCTTCTCAGTACCACATCGCATTTATTCTAAAATTGACCACATAATTGGAAATAAAACACTCCTCAGCAAATGCAAAAGAACAGAAATCATAACAAACAGTCTCTCAGACCACAGCACAACCAAATTAGAACTCAGGATTAAGAAACTCACTCAAAACTGCACAACTACATGGAAACTGAACAAACTGCTCCTGAATGACTACTGGTTACATAACAAAATTAAGGCAGAAATAATAAGTTCTTTGAAACCAATGGGAAGAAATACAAAATGTTCCAGAATCTCTGGGACACTGCCAAAGCAGAGTTTAGAGGGAAATTTATAGCACTAAATGCCCACAGGAGAAAGCAGGAAAGATCTAAAATCAACACCCTAACATCACAATTAGAAGAACTGAGAAGCAAGAGCAAACAAATTCAAAAGCTAGCAGAAGAAATAACTAGGATCAGAGCAGAACTGAAGGAGATACAGACACGAAAAACCCTTCAAAAAATCAGTGAATCCAGGAGCTGGTTTTTTGAAAAGATTAACAACATAGATGGACCACTAGCCAGACTAATAAAGAAGAAAAGAGAGAAGAATCAAATAGGCACAATAAACAATGACAAAGAAAAGATCACCACTTATCCCACAGAAATACAAACTACCATCAGAGAATACTATAAACACCTCTATGCAAATAAACTAGAAAATCTAGAAGAAATGGATAACTTCCTGGACACATACAGCCTCCCAAGATGAAACCAGGAAGAAGAATCCCTGAACAGACCAATAAGAAGTTCTGAAATTGAGGCAGTAATTAATAGCCTACCAACCAAAAAAAAAAAAAAAAGCCCAGGACCAGATGGATTCATAGCCAAATTCTACCAGAGGTACAAAGAGGAACTGGTACCATTCCTTTTAAAACTACTTCAAACAATAGAAAAAGACGGACTCCTCCCTAACTCATTTTATGAGGCCAGCATCATCCTGATACCAAAACTCAGCAGAGACACAACAAAAAAAGAAAATTTCAGGCCAATATCCCTGTTGAACACCGATGTGAAAATCCTCAATAAAATACTGGCAAACCAAATCTGGCAGCACATTAAAAAGCTTATCTACCATGATCAAGTCGGCTTCATCCCTGGGATGCAAGGCTGGTTCAACATACACAAATCAATACTATCCATCACATAAACAGAACCAACGAGAAAAACCACAAGATTATCTCAATAGATGCAGAAAAGGCCTTCGATAAAATTCAAAACCCTTCATGCTAAAAACTCTCAATAAAGTAGGTATTGATGGAATGTATCTCAAAATAATAAGAGCTATTTATGACAAACCCACAGCCAACATCATACTGAATGGGCAAAAGCTGGAAGCATTCCCTCTGAAAACCGGCAAAGACAAGGATGCCCTCTCTCACCACTCCTATTCAACATAGTATTGGAAGTTCTGGCCAGGACAATCAGGCAAGAGAAAGAAATAAAGAGTATTCAAATAGGAAGAGAGGAAGTCAAATTGTCTCTGTTTATAGATGACATGACTGTATATTTAGAAAACCCCATCGTCTAAGCCCCAAATCTCCTTAAGCTGATAAGCAACTTCAGCAAAGTCTCAGGATATAAAATCAGTGTGCAAAAATCACAAGCATTCCTATACACCAATAATGGACAGAGAGTCAAATCATGAGTGAACTCCCATTCACAATTGCTACAAAGAGAATAAAATACCTAGCAAAACAACTTACACGGGATGTGAAGGACCTCTTCAAGGAGAACTACAAACCACTACTCCACAAAATAAAAGAGGACACAAACAAATGAAAAACATTCCATGCTAATGGATAGGAAGAATCAAATCATGAAAATGGCCACACTGCCAAAAGTAATTTACAGATTCAGTGGTATCCCCATCAACCTACCATTGACTTTCTTCACAGAATTAGAAAAAACTACTTTAAATTTCATATGGAACCAAAAAAGAGCCTGTACAGCCAAGAGAATCCTAAGCAAAAAGAACAAAGCTGGAGGCATCACACTACCTGACTTCAAACTATACAAGGCTACAGTAACCAAAACAGCATGGTACTAGTACCAAAACAGATATATAGACCAACAGAACAGAACAGAGCCCTCAGAAATAATGCCACACATCTACAACCATCTGATCTTTGACAAACCTGACAAAAACAAGAAATAGGGAAAGGATTCCCTATTTAATTAATGGTGTTGAGAAAACTGGCTAGCCATATGTAGAGAACTGAAATTGGACCCCTTCCTTACACCTTACACAAAAATTAACTCATGATGGATTAAAGACTTAAACATAAGGCCTAAAATCATAAAAACCCTAGAAGAAAACCTAGGCAATACCATTCAGGACATAGGCATGGGCAAAGACTTCATGACTAAAATATCAAAAGCTATGGCAATAAAAGACAAAATTGACAAATGAGATGTAATTAAACTAAAGAGCTTCTGCATAGCAGAAGAAACTATCAACAGAGTGAACAGGGAACCTACAGAATGGGAGAAAATTTTTGCAATCTATCCATCTGACAAAGGGCTAATATCCAGAATCTACAAGGAACTTAAAACAAATGTACAAGAAAAAAAAAACAACCCCATCAAAAAGTGGGTGATGGATATGAACAGACACTTCTCAAAAGAAGACATTTATGCGGCCAACAAACATGAAAAAAGGCTCATCATCAATGGTCATTAAAGAAATGCAAATCAAAACCACAATGAGATACCGTCTCACGCCAGTTAGAATGGTGACCATTAAAAAGTCAGGAAACAACGAATGCTAGAGGGGATGTGGAGAAATAGGAACACTTTTTACACTGTTGGTGACAGTGTAAATTAGTTCAACCATTGTGGAAGACAGTGTGGCAATTTCTCAAAGATGTAGAACTAGAAATGCCATTTGACCCAGCAATCCCATCACTGGGTACATACCCAAAGGATTATAAATCATTCTACTATAAAGACACATGCACACGTATGTTTATTGCAGCACTTTTCACAATAGCAAAGACTTGGAACCAACCCAAATGCCCATCAATGATAGACTGGATAAAGAAAATGTGGCATATATACACCATGGAATACTATATAGCCATAAAAAAGGATGAGTTCATGTCCTTTACAGGGACATAGATGAAGCTGGAAACCGTCATTCTCTGCAAACTAACACAGGAACAGAAAACCAAACACCACATGTTCTCACTCATAAGTGGGAGGTGAACAATGAGAACACGTGGACACAGGGAAGGAAACATCACACACCGGGGCCTGTTGGGGTTAGGGGGATAGAGGAGGGATAGCATTAGGAGAACTACCTAATGTAGATGACGGGTTGATGGGTGCAGCATGGCACATGTATACCTACGTAACCTGTATGTTCTGCACATTTATCCCAGAAATTAAAGTATAATTAAAAAAAAAAAACTTTTGCCAGGACCCAGTTTCTAGCGGTAATAAAATGAATATGTATTAAGCATAAGGTTACCTGCTAGATTTTAAAAAAATAATAAAAATATACACAAGTATATAGATATCTACAATTCAATAATAAAAAAAGATAATTCACCAAAAATGGCAAAATATCTGAATAGACACTTGCCATAAGAAGAAATAAATGGCTTATACATACATGAGAGGACACTCAACACCATTAGGATTATCATGGAAACTCTAAATAAAATTTAAAAATGCCACTACATACCCATCTGAATGCCTAAAATTAAAAAGATTGACAACGTCAAATATTACCAAGGATATGAAACAGGAACTCTCACACATTGTTGGAAAGTAGGTAAAATGGTAATAATACTTTGAAAAAACGGTCTCGTGGTTTCTTATAAACCTAAACATACACATATCAAAGGACTTTGCACATTCATGCCTAGGTGTTCACCCAATAGAAATGAAAACTTATATCCAAAATTTATTTCCAAAAAGTAGAAAGAGCCCAAGTATCCATCATTAGTGGAATACACAAACAAATCAAGGCTACATTTACTCATAGGAGTACTGTCCAGCAATAAAAAGGAATGAATTGATAAACACAACATGGGTGAAACACAAAAACATGCTGAATGAAAGAAGGCTTATACAAAAGAGTACATACTATTTGATTTCATTTATAGCAAGCTCTACAACAGATGATTCTCATCTGTGGTGAAAGACAAGCTCTACAACAGGTGATTCTAATCAGTGATGAAAGAAAATCAGAATAGTGGTTGCCTCTTGGGTGGGAGTAAAGGGATTCACCAAGGACATATAATAACCTTCTGGGATGATGATACTGTGCAAATTTTGAGAGGTGTTTAAAATACTCAGTGTCTGCATTTGTCAAAATTTATCAAATGTCACCCTTAAGATCTGCGCATTTTGTTACATGTAAATTTTACCTCAAAACAAACACACAAACAAGGATAAATAATGAACTTGAGTTAATAACATGCATGTTGAAATACTGGAGGAGGAATATACTGATGTATGCAATTTACTTTCATGCATCAAAATCTGATGGATTGATAATGGATAAAGGGATGGAAAGATGAATAAATGTGATTAAGTATAGTAAATAATTACAGAATATATGTAGAGGATACATAAGTTTCCACAGTAAAATTCTTTCCAACTTTTCTGAATTTTTGAAAAATTTCATGCTAGAAAAACTACAGAAATATCTATTATGATATTCACACTTTGTACCAAACAGATAACATACTTTTCAAAAAATAAGGAATAGTTACAATTAGTAAACTGTATTAAAAAAGAAGATCCCAAATCCCAAAGGCAGAAATCACTGAACAACATATAAACTTAAAATTAAGCAAAACTAATAGAAAAATAGCATACTTGGAAAGTGTGTGTATATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATACATATACATATATATATATATTTTTTTTTTTTTGAGATGAAGTCTCGCTCTTGTCACCCAGGCTGGAGTGCAATGGCACCATCTCTACCCACTGCAACCTCCGCCTCCCAGGTTCAAGCAATTATCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCTGTCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCCCCATTTTGGCCATACTGGTCTTGAACTCCTGACCTCAGACGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCCCACCCAGAAAGTATTTTTTTAAAATAATTCTAAATCACTCTTGGATTCAGAATAAAATACCAATTATGTGGAGATGAATAAAAACAAAAACACTCTCTATGAAAACACAGTAAGAAGGATAAAAGAAGAAATGAAGTCAAAGTGAAAACAAAACAGAAAACAAAAAGATCGAATCTATACATTTTAAAGCAATTTTTGGAAAGGACCAATAAAAAACAACCTCTGAAAAGTTTACTCAAAAAACAACAACAGAAGAAATTTCTAATACTAGCAACAAAAACCGAAGAAAAAATGTATTGAGAATTAAAGAAAATGTTAATGTGGATACACAGAATAGAAATTGAAAATTATGCTTTTTATTTAAAAAGTAATGGTAGTAGACAATATTCTAAAATAAGAATAATGGTGTTCTATCATGAATGGGTGATGGATGTTGTCAAACATTTTTTCTCCATCTAATGATACGTATGTGAGTTTTCTTATTTAGCCTGGTTATTTGATGGTTTTAAATTAGCAATTTATATGATTACATATTCTCTCCTTTCTTAGCACATCAATTACAGTCATATGCTGTATAAGGATGTTTCAGTCAATGACAGACTGCATATATGACAGTGGTCCCAAAAGATTATAATACTGCATTTTTACTGTATCTTTCCTATGTTTAGTTATGTTTAAATACACAAATATTTATCATTTTGTTACAATTGCCTGTAGTATTCATTACAGTAACATGGCATACATGTTTGTAGCCTAAGAGCTATAGGCCATATCATATAGCTTAAATGTATAGTAGGCTACACCATCTGGGTTTGTGTATGTATACTCTGATGTTCAAACAATGATGAAATTGCCTAAGGACACATCTCTCAGAACATATTTTCATTGTTAAGTGATGTATGACTGTATATTTCTTATTTTTAGTAGTTGCAAACTAAAAGTTTGCAGTATAGATTTATAATTATTCCAAGTCCAGTTTCAAATAATGCTATACTGCTTCACAGGTAGTGCTGTGAAATACCTTATAATAACAAAATATTCCTCATTTTTCCTTCCTATCCCTTCTATCACTGCTGTCATTCATTTCACATAGAAATAAATATACAGTCATCCCTTGGTATATGTGTGAGATTGGTTCCAGGAACCCCATGTAAAGCAAAATCTGCACATATTCAAGTCCTGCAGTCGGCCCCTTGGAATCTGCAAATACGAAAAGTCAGCCCTCCATATCCATGAGTTTTATATCCTGAGAATACTACATTTTCAATCCGTGTTTGGTTGAAAACATCTGCATATCATTGGGCTTGGGTAGTTCAAACCCATGCTGTCTAAGGGTCAACTGTACATACACACATAAGCATACATAATAGAAAACACTGTTGCTATTATTATTTTGAACAAACTGTTATCTGTTAAATTAACAATAAGAAAAATGTTATTTTATCTATGTTTATTCGTTCTTCAAAATTATTCCTTTTGTTATACAGATCTGAGTTTCTGATCTGTATCATTTAACTTCTCTCTGAAGAACTTCTTTTAACATTTCCTGCAAGGCAAGTCTAATAGCAACAATTCCCTCAATTTAGTTTATCTGAAAAAGTTTTTATTTCTTCATTTTTGAAGTATAACTTTGCACAGTACAGAATTCTAGGTTGGTGAGTTTTTTTCTAATCTTTGCTCCCATATAGGTAAGGTGTTTCTTTCCCCTTTGGTCTTTCAGGATTTTTCATTTCTCTTTGATTTACTGCAATTTGAATATCATACGCTCACAGGTAGAATTTTTTGTTTTTGTTTTTTGGGGGAAGCATTTATCTTGCTTGGTATTCTCCTATTCTCTAAACTTCCTGGATCTAGGATTTGGTGTCTGTCACTAATTTGGGGAAAATTCTCAGTCATGATTGTTTCAAATACTGCTTTTGTTCCTCCTCACTTTCTTTTCCCTTCTGGTATCCCAATTACATGTACGTTATACCTTTTTGCAGTTGTCCCACAGTTTCAGATATTCTGTTCACTTTCTCCCCAGTCTTCTTTAAATTGTTTTTCAATTTTGGAAGTTACTATTGTCATATCCTCAAGCTGAGATTATTTCCTCAGCTATCTGGTCTACTAATCAGCCTATCAATAGCACTGTTCACTTTTGTTACCATGTTTTCAAATTCTGGCATTTCTTTTTTTTTTTTTTAATTTGAGCTCATTTATTGGTTCAGAATTTACTAAGACAGCAAGAAAACTTTTTTTTTTTTTTTGGTTTGGATCCTCAATAGTTTTTATTTTATTTATTTATTTACTTAATTTTATTATTATTATACTTTAAGTTTTAGGGTACATGTGCACAACGTGCAGGTTAGTTACATATGTATACATGTGCCACGTTGGTGTGCTGCACCCATTAACTCGTCATTTAGCATTAGGTATATCTCCTAATGATATCCCTCCCCCTTCCTCCCACCCCACAACAGTCCCCAGAGTGTGATGTTCCCCTTCCTGTGTCCATGTGTTCTCATTGTTCAATTCCCACCTATGAGCGAGAACATGCGGTGTTTTTTTGTCCTTGCGATAGTTTGCTGAGAATGATGATTTCCAATTTCATCCATGTCCCTACAAAGGACATGAACTCATCATTTTTTATGGCTGCATAGTATTCCATGGTGTATATGTGCCACGTTTTCTTAATCCAGTCTATGGTTCTTGGACATTTAGGTTGGTTCCAAGTCTTTGCTATTGTGAATAGTGCTGCTATAAACATATGTGTGCATGTGTCTTTACAGCAGCATGATTTATAATCCTTTGGGTATGTACCCAGTGATGGGATGGCTGGGTCAAATGGTTTTCTAGTTCTAGATCCCTGAGGAATCACCACACTGACTTCCACAATGGTTGAACTAGTTTGCAGTCCCACTCACAGTGTAAAAGTGTTCCTATTTCTCCACATCCTCTCCAGCACCTGTTGTTTCCTGACTTTTTAATGATCGCCATTCTAACTGGTGTGAGATGGTATCTCATTGTGGTTTTGATTTGCATTTCTCTGATGGACAGTGATGATGAGCATTTTTTCATGTGTCTGTTGGCTGCATAAATGTCTTCTTTTGAGAAGTATCTGTTCATATCCTTTGCCCACTTTTTGATGGGGTTGTTTTTTTTCTTGTAAATTTGAGTTCATTGTAGATTCTGGATATTAGCCCTTTGTCAGATGAGTAGGTTGCAAAAATCTTCTCCCATTCTGTAGGTTGCCTGTTCAGTCTGATGGTAGTTTCTTTTGCTGTGCAGAAGCTCTTTAGTTTAATTAGATCCCATTTGTCAATTTTGGCTTTTGTTGCCATTGCTTTTGGTGTTTTAGACATGAAGTCCTTGCCCATGCCTATGTCCTGAATGGTATTGCCTAGGTTTTCTTCTAGGGTTTTTATGGTTTTAGGTCTAACCTTTAAGTCTTTAATCCATCTTGAATTAATTTTTGTATAAGGTGTAAGGAAGGGATCCAGTTTCAGCTTTCTACATATGGCTAGCCAGTTTGCCCAGCACCATTTATTAAATAGGGAATCCTTTCCCTATTGCTTGTTTTTGTCAGGTTTGTCAAAGATCAGATAGCTGTAGATATGCGGCATTATTTCTGAGGGCTCTGTTCTGTTCCATTGGTCTATATCTCTGTTTCGGTACCAGTACCATGCTGTTTTGGTTACTGTAGCCTTGTAGTATAGTTTGAAGTCAGGTAAGCGGGATGCCTCCAGCTTCGTTCTTTTGCCTTAGGATTGACTTGGCGATGCGGGCTCTTTTTTGGTTCCATATGAACTTTAAAGTAGTTTTTTCTGATTCTGTGAAGAAAGTCATTGGTAGCTTGATGGGGATGGCATTGAAT |
TALT : T |
60QUAL : 60 |
.FILTER : . |
AC=21; AF=0.235955; AN=89; AT=>61664612>[...]INFO : AC=21; AF=0.235955; AN=89; AT=>61664612>61664611>61664610>61664608>61664607>61664605>61664604>61664602>61664601>61664599>61664598>61664596>61664595>61664593>61664592>61664590>61664589>61664587>61664586>61664584>61664583>61664581>61664580>61664578>61664577>61664575>61664574>61664572>61664570>61664569>61664566>61664565>61664563>61664562>61664560>61664559>61664557>61664556>61664554>61664553>61664551>61664550>61664548>61664547>61664545>61664544>61664542>61664540>61664539>61664537>61664536>61664534>61664533>61664531>61664530>61664528>61664527>61664526>61664525>61664523>61664522>61664520>61664519>61664517>61664516>61664514>61664513>61664511>61664510>61664508>61664507>61664505>61664504>61664503>61664502>61664500>61664499>61664497>61664496>61664495>61664494>61664492>61664490>61664487>61664485>61664484>61664482>61664481>61664479>61664478>61664476>61664475>61664473>61664472>61664470>61664469>61664467>61664465>61664464>61664463>61664462>61664460>61664459>61664457>61664456>61664454>61664453>61664451>61664450>61664448>61664447>61664445>61664444>61664443>61664442>61664440>61664439>61664437>61664436>61664434>61664433>61664429>61664428>61664426>61664425>61664423>61664422>61664420>61664419>61664417>61664416>61664414>61664413>61664411>61664410>61664408>61664407>61664405>61664404>61664402>61664401>61664399>61664398>61664396>61664395>61664393>61664392>61664390>61664389>61664387>61664386>61664385>61664384>61664382>61664381,>61664612>61664381; LV=0; NS=45; e=76604598; s=12347; rC=LINE/L1 |
GTFORMAT : GT |
1CHM13 : 1 |
0|0HG00438 : 0|0 |
1|0HG00621 : 1|0 |
0|0HG00673 : 0|0 |
0|1HG00733 : 0|1 |
0|1HG00735 : 0|1 |
1|0HG00741 : 1|0 |
0|0HG01071 : 0|0 |
0|1HG01106 : 0|1 |
1|0HG01109 : 1|0 |
0|1HG01123 : 0|1 |
0|0HG01175 : 0|0 |
0|0HG01243 : 0|0 |
1|0HG01258 : 1|0 |
0|0HG01358 : 0|0 |
0|1HG01361 : 0|1 |
1|0HG01891 : 1|0 |
0|1HG01928 : 0|1 |
1|1HG01952 : 1|1 |
0|1HG01978 : 0|1 |
0|0HG02055 : 0|0 |
0|1HG02080 : 0|1 |
0|0HG02109 : 0|0 |
0|0HG02145 : 0|0 |
1|1HG02148 : 1|1 |
0|0HG02257 : 0|0 |
0|0HG02486 : 0|0 |
0|0HG02559 : 0|0 |
0|0HG02572 : 0|0 |
0|1HG02622 : 0|1 |
0|0HG02630 : 0|0 |
0|1HG02717 : 0|1 |
0|0HG02723 : 0|0 |
0|0HG02818 : 0|0 |
0|0HG02886 : 0|0 |
0|0HG03098 : 0|0 |
1|0HG03453 : 1|0 |
0|0HG03486 : 0|0 |
0|0HG03492 : 0|0 |
0|0HG03516 : 0|0 |
0|0HG03540 : 0|0 |
0|0HG03579 : 0|0 |
0|0NA18906 : 0|0 |
0|0NA20129 : 0|0 |
0|0NA21309 : 0|0 |
||
1ACMG_class : 1 AnnotSV_ranking_score : -1.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2F/4O (cf B_loss_source, -1.00): Completely contained within an established benign CNV region. 2B (cf po_P_loss_source, HI and OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 3A (1 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 176 Gene_count : 1 |
fullAnnotation_mode : full |
GNSGene_name : GNS; LOEUF_bin : 3 GnomAD_pLI : 5.6441e-04 ExAC_pLI : 8.2905e-02 HI : . TS : . DDD_HI_percent : 30.08 ExAC_cnvZ : -0.337735357311546 ExAC_delZ : 0.409790176114064 ExAC_dupZ : -0.679490615390371 ExAC_synZ : -0.33534265775009 ExAC_misZ : 1.51643546514957 Closest_left : MIR548Z Closest_right : TBC1D30 |
.Location : . CytoBand : q14.3 |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : Mucopolysaccharidosis type IIID, 252940 (3) AR po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15136921; dbVar:nssv18786358; dbVar:nssv18790880; morbid:GNS; dbVar:nssv16212003 po_P_loss_coord : 12:60907152-66568077; 12:64215679-69958323; 12:64455872-65463322; 12:64713449-64759406; 12:64739372-64747928 po_P_loss_percent : 0.00; 0.00; 0.02; 0.38; 2.06 |
.P_snvindel_nb : . P_snvindel_phen : . |
CMRI:0_pbsv.DEL.874_duplicate8; HPRC:pbsv.DEL[...]B_loss_source : CMRI:0_pbsv.DEL.874_duplicate8; HPRC:pbsv.DEL.4586; dbVar B_loss_coord : 12:64741047-64741223; chr12:64741047-64741223; chr12:64741047-64741223 B_loss_AFmax : 0.7961 po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : chr12:64741047-64741223 HPRC:pbsv.DEL.4586; chr12:64741063-64741223 gnomAD-SV_v3_DEL_chr12_ad2a3668 po_B_loss_someG_coord : 12:64741047-64741223 CMRI:0_pbsv.DEL.874_duplicate8; chr12:64741047-64741223 dbVar |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 12:64741064-64741229 Repeat_type_left : AluYa5 Gap_left : . GC_content_left : 0.490 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 12:64741064-64741229; 12:64741267-64741321 Repeat_type_right : AluYa5; AluSx Gap_right : . GC_content_right : 0.515 |
CHM13,HG00438,HG00621,HG00673,HG00733,HG00735[...]Samples_ID : CHM13,HG00438,HG00621,HG00673,HG00733,HG00735,HG00741,HG01071,HG01106,HG01109,HG01123,HG01175,HG01243,HG01258,HG01361,HG01891,HG01928,HG01952,HG01978,HG02055,HG02080,HG02109,HG02145,HG02148,HG02257,HG02486,HG02559,HG02572,HG02622,HG02630,HG02717,HG02723,HG02818,HG02886,HG03098,HG03453,HG03486,HG03492,HG03516,HG03540,HG03579,NA18906,NA20129,NA21309 |
>53760240>53760242ID : >53760240>53760242 |
TAGAAAATGGGCAAATAGGGCGTAGTGGCGGGCGCCTGTAGTCCC[...]REF : TAGAAAATGGGCAAATAGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAA |
TALT : T |
60QUAL : 60 |
.FILTER : . |
AC=74; AF=0.831461; AN=89; AT=>53760240>[...]INFO : AC=74; AF=0.831461; AN=89; AT=>53760240>53760241>53760242,>53760240>53760242; LV=0; NS=45; e=64741223; s=176; rC=SINE/Alu |
GTFORMAT : GT |
1CHM13 : 1 |
1|1HG00438 : 1|1 |
1|0HG00621 : 1|0 |
1|1HG00673 : 1|1 |
1|0HG00733 : 1|0 |
1|0HG00735 : 1|0 |
1|1HG00741 : 1|1 |
0|1HG01071 : 0|1 |
0|1HG01106 : 0|1 |
1|1HG01109 : 1|1 |
1|0HG01123 : 1|0 |
1|0HG01175 : 1|0 |
1|0HG01243 : 1|0 |
0|1HG01258 : 0|1 |
0|0HG01358 : 0|0 |
1|0HG01361 : 1|0 |
0|1HG01891 : 0|1 |
1|1HG01928 : 1|1 |
1|0HG01952 : 1|0 |
1|1HG01978 : 1|1 |
1|1HG02055 : 1|1 |
1|1HG02080 : 1|1 |
1|1HG02109 : 1|1 |
1|1HG02145 : 1|1 |
1|1HG02148 : 1|1 |
1|1HG02257 : 1|1 |
1|1HG02486 : 1|1 |
1|1HG02559 : 1|1 |
1|1HG02572 : 1|1 |
1|1HG02622 : 1|1 |
1|1HG02630 : 1|1 |
1|1HG02717 : 1|1 |
1|1HG02723 : 1|1 |
1|1HG02818 : 1|1 |
1|1HG02886 : 1|1 |
1|1HG03098 : 1|1 |
1|1HG03453 : 1|1 |
0|1HG03486 : 0|1 |
1|1HG03492 : 1|1 |
1|1HG03516 : 1|1 |
1|1HG03540 : 1|1 |
1|1HG03579 : 1|1 |
1|1NA18906 : 1|1 |
1|1NA20129 : 1|1 |
1|1NA21309 : 1|1 |
||
full=1ACMG_class : full=1 |
DELSV_type : DEL SV_length : 176 |
splitAnnotation_mode : split |
GNSGene_name : GNS; LOEUF_bin : 3 GnomAD_pLI : 5.6441e-04 ExAC_pLI : 8.2905e-02 HI : 30 TS : . DDD_HI_percent : 30.08 ACMG : . ExAC_cnvZ : -0.337735357311546 ExAC_delZ : 0.409790176114064 ExAC_dupZ : -0.679490615390371 ExAC_synZ : -0.33534265775009 ExAC_misZ : 1.51643546514957 GenCC_disease : mucopolysaccharidosis type 3D GenCC_moi : AR GenCC_classification : Definitive; Strong; Supportive GenCC_pmid : 12573255[PMID]_17998446[PMID]; 12624138; 17998446; 19650410; 20232353; 251476; 25851924; 3100754; 6450420 NCBI_gene_ID : 2799 |
intron6-intron6Location : intron6-intron6 CytoBand : q14.3 Location2 : CDS Tx : NM_002076 Tx_version : 4 Tx_start : 64713448 Tx_end : 64759406 Exon_count : 14 Overlapped_tx_length : 176 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 358 Nearest_SS_type : 3' Intersect_start : 64741046 Intersect_end : 64741222 |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
CMRI:0_pbsv.DEL.874_duplicate8; HPRC:pbsv.DEL[...]B_loss_source : CMRI:0_pbsv.DEL.874_duplicate8; HPRC:pbsv.DEL.4586; dbVar B_loss_coord : 12:64741047-64741223; chr12:64741047-64741223; chr12:64741047-64741223 B_loss_AFmax : 0.7961 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
CHM13,HG00438,HG00621,HG00673,HG00733,HG00735[...]Samples_ID : CHM13,HG00438,HG00621,HG00673,HG00733,HG00735,HG00741,HG01071,HG01106,HG01109,HG01123,HG01175,HG01243,HG01258,HG01361,HG01891,HG01928,HG01952,HG01978,HG02055,HG02080,HG02109,HG02145,HG02148,HG02257,HG02486,HG02559,HG02572,HG02622,HG02630,HG02717,HG02723,HG02818,HG02886,HG03098,HG03453,HG03486,HG03492,HG03516,HG03540,HG03579,NA18906,NA20129,NA21309 |
>53760240>53760242ID : >53760240>53760242 |
TAGAAAATGGGCAAATAGGGCGTAGTGGCGGGCGCCTGTAGTCCC[...]REF : TAGAAAATGGGCAAATAGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAA |
TALT : T |
60QUAL : 60 |
.FILTER : . |
AC=74; AF=0.831461; AN=89; AT=>53760240>[...]INFO : AC=74; AF=0.831461; AN=89; AT=>53760240>53760241>53760242,>53760240>53760242; LV=0; NS=45; e=64741223; s=176; rC=SINE/Alu |
GTFORMAT : GT |
1CHM13 : 1 |
1|1HG00438 : 1|1 |
1|0HG00621 : 1|0 |
1|1HG00673 : 1|1 |
1|0HG00733 : 1|0 |
1|0HG00735 : 1|0 |
1|1HG00741 : 1|1 |
0|1HG01071 : 0|1 |
0|1HG01106 : 0|1 |
1|1HG01109 : 1|1 |
1|0HG01123 : 1|0 |
1|0HG01175 : 1|0 |
1|0HG01243 : 1|0 |
0|1HG01258 : 0|1 |
0|0HG01358 : 0|0 |
1|0HG01361 : 1|0 |
0|1HG01891 : 0|1 |
1|1HG01928 : 1|1 |
1|0HG01952 : 1|0 |
1|1HG01978 : 1|1 |
1|1HG02055 : 1|1 |
1|1HG02080 : 1|1 |
1|1HG02109 : 1|1 |
1|1HG02145 : 1|1 |
1|1HG02148 : 1|1 |
1|1HG02257 : 1|1 |
1|1HG02486 : 1|1 |
1|1HG02559 : 1|1 |
1|1HG02572 : 1|1 |
1|1HG02622 : 1|1 |
1|1HG02630 : 1|1 |
1|1HG02717 : 1|1 |
1|1HG02723 : 1|1 |
1|1HG02818 : 1|1 |
1|1HG02886 : 1|1 |
1|1HG03098 : 1|1 |
1|1HG03453 : 1|1 |
0|1HG03486 : 0|1 |
1|1HG03492 : 1|1 |
1|1HG03516 : 1|1 |
1|1HG03540 : 1|1 |
1|1HG03579 : 1|1 |
1|1NA18906 : 1|1 |
1|1NA20129 : 1|1 |
1|1NA21309 : 1|1 |
||
1ACMG_class : 1 AnnotSV_ranking_score : -1.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2F/4O (cf B_loss_source, -1.00): Completely contained within an established benign CNV region. 2B (cf po_P_loss_source, HI and OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 2C-2 (PCDH15,+0.00): Partial overlap with the 5' end of an established HI gene / morbid gene (3' end of the gene not involved) and only the 5' UTR is involved 3A (1 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 125 Gene_count : 1 |
fullAnnotation_mode : full |
PCDH15Gene_name : PCDH15; LOEUF_bin : 4 GnomAD_pLI : 8.0283e-25 ExAC_pLI : 7.2312e-11 HI : . TS : . DDD_HI_percent : 23.23 ExAC_cnvZ : -0.270961846367277 ExAC_delZ : -1.70907171020359 ExAC_dupZ : 0.649013663491648 ExAC_synZ : -0.472349288805724 ExAC_misZ : -2.87993087221192 Closest_left : MIR548F1 Closest_right : LOC124902580 |
.Location : . CytoBand : q21.1 |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv18830989; dbVar:nssv15223154; dbVar:nssv16208274; dbVar:nssv16208896; dbVar:nssv15130007; dbVar:nssv16208897; dbVar:nssv15120643 po_P_loss_coord : 10:12787208-133613639; 10:45931518-58301883; 10:45931518-67496325; 10:53830191-62230890; 10:54069819-54963276; 10:54271451-63900638; 10:54287240-57268543 po_P_loss_percent : 0.00; 0.00; 0.00; 0.00; 0.01; 0.00; 0.00 |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVar; gnomAD-SV_v3_DEL_chr10_a13546d2; gnomA[...]B_loss_source : dbVar; gnomAD-SV_v3_DEL_chr10_a13546d2; gnomAD-SV_v3_DEL_chr10_e433cf8f B_loss_coord : chr10:37996824-76847693; chr10:53764413-94620402; chr10:54600438-55000631; chr10:54898740-55253759 B_loss_AFmax : 0.1396 po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : chr10:53764413-94620402 gnomAD-SV_v3_DEL_chr10_e433cf8f; chr10:54898740-55253759 dbVar; chr10:54938288-54938413 HPRC:pbsv.DEL.5245 po_B_loss_someG_coord : chr10:37996824-76847693 gnomAD-SV_v3_DEL_chr10_a13546d2; chr10:54600438-55000631 dbVar; 10:54938288-54938413 CMRI:0_pbsv.DEL.941_duplicate6 |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 10:54935883-54938615 Repeat_type_left : L1MB8 Gap_left : . GC_content_left : 0.240 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 10:54935883-54938615 Repeat_type_right : L1MB8 Gap_right : . GC_content_right : 0.265 |
CHM13,HG00621,HG00733,HG00741,HG01071,HG01258[...]Samples_ID : CHM13,HG00621,HG00733,HG00741,HG01071,HG01258,HG01952,HG01978,HG02148,HG02572 |
>46265425>46265428ID : >46265425>46265428 |
GGTTTAGCATAGTGTATAGTACTTTTTATATGTTGATGGATGTAG[...]REF : GGTTTAGCATAGTGTATAGTACTTTTTATATGTTGATGGATGTAGTCTGCTAGTATTAAGTGAAATTTTTTTGTCTATATTCATTAAAGATATTACTTTATAGTTTTACTTACTCGTAATATTTCG |
GALT : G |
60QUAL : 60 |
.FILTER : . |
AC=11; AF=0.123596; AN=89; AT=>46265425>[...]INFO : AC=11; AF=0.123596; AN=89; AT=>46265425>46265426>46265427>46265428,>46265425>46265428; LV=0; NS=45; e=54938411; s=125; rC=LINE/L1 |
GTFORMAT : GT |
1CHM13 : 1 |
0|0HG00438 : 0|0 |
0|1HG00621 : 0|1 |
0|0HG00673 : 0|0 |
0|1HG00733 : 0|1 |
0|0HG00735 : 0|0 |
1|0HG00741 : 1|0 |
1|0HG01071 : 1|0 |
0|0HG01106 : 0|0 |
0|0HG01109 : 0|0 |
0|0HG01123 : 0|0 |
0|0HG01175 : 0|0 |
0|0HG01243 : 0|0 |
1|0HG01258 : 1|0 |
0|0HG01358 : 0|0 |
0|0HG01361 : 0|0 |
0|0HG01891 : 0|0 |
0|0HG01928 : 0|0 |
1|1HG01952 : 1|1 |
0|1HG01978 : 0|1 |
0|0HG02055 : 0|0 |
0|0HG02080 : 0|0 |
0|0HG02109 : 0|0 |
0|0HG02145 : 0|0 |
1|0HG02148 : 1|0 |
0|0HG02257 : 0|0 |
0|0HG02486 : 0|0 |
0|0HG02559 : 0|0 |
1|0HG02572 : 1|0 |
0|0HG02622 : 0|0 |
0|0HG02630 : 0|0 |
0|0HG02717 : 0|0 |
0|0HG02723 : 0|0 |
0|0HG02818 : 0|0 |
0|0HG02886 : 0|0 |
0|0HG03098 : 0|0 |
0|0HG03453 : 0|0 |
0|0HG03486 : 0|0 |
0|0HG03492 : 0|0 |
0|0HG03516 : 0|0 |
0|0HG03540 : 0|0 |
0|0HG03579 : 0|0 |
0|0NA18906 : 0|0 |
0|0NA20129 : 0|0 |
0|0NA21309 : 0|0 |
||
full=1ACMG_class : full=1 |
DELSV_type : DEL SV_length : 125 |
splitAnnotation_mode : split |
PCDH15Gene_name : PCDH15; LOEUF_bin : 4 GnomAD_pLI : 8.0283e-25 ExAC_pLI : 7.2312e-11 HI : 30 TS : 0 DDD_HI_percent : 23.23 ACMG : . ExAC_cnvZ : -0.270961846367277 ExAC_delZ : -1.70907171020359 ExAC_dupZ : 0.649013663491648 ExAC_synZ : -0.472349288805724 ExAC_misZ : -2.87993087221192 GenCC_disease : Usher syndrome type 1; Usher syndrome type 1F; autosomal recessive nonsyndromic hearing loss 23; hearing loss, autosomal recessive; nonsyndromic genetic hearing loss GenCC_moi : AR GenCC_classification : Definitive; Limited; Strong; Supportive GenCC_pmid : 11138007; 11398101; 11487575; 12711741; 12782354; 14570705; 1457075; 16260500; 19107147; 20301442[PMID]; 20301607[PMID]_24148127[PMID]; 21117948; 23767834; 25930172; 26226137; 28281779; 602083 NCBI_gene_ID : 65217 |
intron3-intron3Location : intron3-intron3 CytoBand : q21.1 Location2 : 5'UTR Tx : NM_001354404 Tx_version : 2 Tx_start : 53821098 Tx_end : 55627942 Exon_count : 35 Overlapped_tx_length : 125 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 40785 Nearest_SS_type : 3' Intersect_start : 54938285 Intersect_end : 54938410 |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVar; gnomAD-SV_v3_DEL_chr10_a13546d2; gnomA[...]B_loss_source : dbVar; gnomAD-SV_v3_DEL_chr10_a13546d2; gnomAD-SV_v3_DEL_chr10_e433cf8f B_loss_coord : chr10:37996824-76847693; chr10:53764413-94620402; chr10:54600438-55000631; chr10:54898740-55253759 B_loss_AFmax : 0.1396 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
CHM13,HG00621,HG00733,HG00741,HG01071,HG01258[...]Samples_ID : CHM13,HG00621,HG00733,HG00741,HG01071,HG01258,HG01952,HG01978,HG02148,HG02572 |
>46265425>46265428ID : >46265425>46265428 |
GGTTTAGCATAGTGTATAGTACTTTTTATATGTTGATGGATGTAG[...]REF : GGTTTAGCATAGTGTATAGTACTTTTTATATGTTGATGGATGTAGTCTGCTAGTATTAAGTGAAATTTTTTTGTCTATATTCATTAAAGATATTACTTTATAGTTTTACTTACTCGTAATATTTCG |
GALT : G |
60QUAL : 60 |
.FILTER : . |
AC=11; AF=0.123596; AN=89; AT=>46265425>[...]INFO : AC=11; AF=0.123596; AN=89; AT=>46265425>46265426>46265427>46265428,>46265425>46265428; LV=0; NS=45; e=54938411; s=125; rC=LINE/L1 |
GTFORMAT : GT |
1CHM13 : 1 |
0|0HG00438 : 0|0 |
0|1HG00621 : 0|1 |
0|0HG00673 : 0|0 |
0|1HG00733 : 0|1 |
0|0HG00735 : 0|0 |
1|0HG00741 : 1|0 |
1|0HG01071 : 1|0 |
0|0HG01106 : 0|0 |
0|0HG01109 : 0|0 |
0|0HG01123 : 0|0 |
0|0HG01175 : 0|0 |
0|0HG01243 : 0|0 |
1|0HG01258 : 1|0 |
0|0HG01358 : 0|0 |
0|0HG01361 : 0|0 |
0|0HG01891 : 0|0 |
0|0HG01928 : 0|0 |
1|1HG01952 : 1|1 |
0|1HG01978 : 0|1 |
0|0HG02055 : 0|0 |
0|0HG02080 : 0|0 |
0|0HG02109 : 0|0 |
0|0HG02145 : 0|0 |
1|0HG02148 : 1|0 |
0|0HG02257 : 0|0 |
0|0HG02486 : 0|0 |
0|0HG02559 : 0|0 |
1|0HG02572 : 1|0 |
0|0HG02622 : 0|0 |
0|0HG02630 : 0|0 |
0|0HG02717 : 0|0 |
0|0HG02723 : 0|0 |
0|0HG02818 : 0|0 |
0|0HG02886 : 0|0 |
0|0HG03098 : 0|0 |
0|0HG03453 : 0|0 |
0|0HG03486 : 0|0 |
0|0HG03492 : 0|0 |
0|0HG03516 : 0|0 |
0|0HG03540 : 0|0 |
0|0HG03579 : 0|0 |
0|0NA18906 : 0|0 |
0|0NA20129 : 0|0 |
0|0NA21309 : 0|0 |
||
1ACMG_class : 1 AnnotSV_ranking_score : -1.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2F/4O (cf B_loss_source, -1.00): Completely contained within an established benign CNV region. 2B (cf po_P_loss_source, HI and OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 3A (1 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 124 Gene_count : 1 |
fullAnnotation_mode : full |
.Location : . CytoBand : q12 |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : Retinitis pigmentosa 25, 602772 (3) AR po_P_loss_hpo : . po_P_loss_source : dbVar:nssv16206488; dbVar:nssv17976865; dbVar:nssv17972972; dbVar:nssv16214019; dbVar:nssv15138420; dbVar:nssv18791637; dbVar:nssv16212174; dbVar:nssv16213873; dbVar:nssv18791630; morbid:EYS; dbVar:nssv15152024; dbVar:nssv18791632; dbVar:nssv17970930; dbVar:nssv16212573; dbVar:nssv18329435; dbVar:nssv17972023; dbVar:nssv16212880; dbVar:nssv17976383 po_P_loss_coord : 6:63956524-65484337; 6:64244795-78871961; 6:64388671-65707225; 6:64436165-65495865; 6:64549656-83426791; 6:64821636-65495865; 6:64902114-65495410; 6:64997573-65495865; 6:65295854-65707146; 6:65334896-65579804; 6:65353619-65494662; 6:65384367-65707225; 6:65384377-65495865; 6:65384387-65495410; 6:65384502-65490593; 6:65402459-65495993; 6:65402469-65495865; 6:65405369-65639777 po_P_loss_percent : 0.01; 0.00; 0.01; 0.01; 0.00; 0.02; 0.02; 0.02; 0.03; 0.05; 0.09; 0.04; 0.11; 0.11; 0.12; 0.13; 0.13; 0.05 |
.P_snvindel_nb : . P_snvindel_phen : . |
CMRI:3_pbsv.DEL.1378_duplicate3; HPRC:pbsv.DE[...]B_loss_source : CMRI:3_pbsv.DEL.1378_duplicate3; HPRC:pbsv.DEL.4756; dbVar B_loss_coord : chr6:65203540-65636799; chr6:65284956-66872862; 6:65478966-65479090; chr6:65478966-65479090; chr6:65478966-65479090 B_loss_AFmax : 0.3506 po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : chr6:65284956-66872862 dbVar; chr6:65478966-65479090 HPRC:pbsv.DEL.4756; 6:65479009-65479187 esv2667605 po_B_loss_someG_coord : chr6:65203540-65636799 dbVar; 6:65478966-65479090 CMRI:3_pbsv.DEL.1378_duplicate3; chr6:65478966-65479090 dbVar |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : 6:65474063-65480149 Repeat_coord_left : 6:65478946-65479090 Repeat_type_left : L1M4a1 Gap_left : . GC_content_left : 0.340 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : 6:65474063-65480149 Repeat_coord_right : 6:65478946-65479090; 6:65479113-65479252 Repeat_type_right : L1M4a1; L1MEf Gap_right : . GC_content_right : 0.350 |
CHM13,HG00438,HG00733,HG01106,HG01123,HG01175[...]Samples_ID : CHM13,HG00438,HG00733,HG01106,HG01123,HG01175,HG01243,HG01952,HG01978,HG03492,NA21309 |
>30018422>30018424ID : >30018422>30018424 |
GTAAACTCAGAAATTTATCCAACGAAATTATCTAATCTGTAGAAT[...]REF : GTAAACTCAGAAATTTATCCAACGAAATTATCTAATCTGTAGAATAGTGAGAGGACCACAAATGGTTGAACTAAAATGAATAGAGCCTCAGTGACCAGTAGGAGAATTCTTAATCTACCATACCA |
GALT : G |
60QUAL : 60 |
.FILTER : . |
AC=12; AF=0.134831; AN=89; AT=>30018422>[...]INFO : AC=12; AF=0.134831; AN=89; AT=>30018422>30018423>30018424,>30018422>30018424; LV=0; NS=45; e=65479090; s=124; rC=LINE/L1 |
GTFORMAT : GT |
0CHM13 : 0 |
1|1HG00438 : 1|1 |
0|0HG00621 : 0|0 |
0|0HG00673 : 0|0 |
0|1HG00733 : 0|1 |
0|0HG00735 : 0|0 |
0|0HG00741 : 0|0 |
0|0HG01071 : 0|0 |
1|0HG01106 : 1|0 |
0|0HG01109 : 0|0 |
1|0HG01123 : 1|0 |
1|1HG01175 : 1|1 |
1|0HG01243 : 1|0 |
0|0HG01258 : 0|0 |
0|0HG01358 : 0|0 |
0|0HG01361 : 0|0 |
0|0HG01891 : 0|0 |
0|0HG01928 : 0|0 |
0|1HG01952 : 0|1 |
0|1HG01978 : 0|1 |
0|0HG02055 : 0|0 |
0|0HG02080 : 0|0 |
0|0HG02109 : 0|0 |
0|0HG02145 : 0|0 |
0|0HG02148 : 0|0 |
0|0HG02257 : 0|0 |
0|0HG02486 : 0|0 |
0|0HG02559 : 0|0 |
0|0HG02572 : 0|0 |
0|0HG02622 : 0|0 |
0|0HG02630 : 0|0 |
0|0HG02717 : 0|0 |
0|0HG02723 : 0|0 |
0|0HG02818 : 0|0 |
0|0HG02886 : 0|0 |
0|0HG03098 : 0|0 |
0|0HG03453 : 0|0 |
0|0HG03486 : 0|0 |
0|1HG03492 : 0|1 |
0|0HG03516 : 0|0 |
0|0HG03540 : 0|0 |
0|0HG03579 : 0|0 |
0|0NA18906 : 0|0 |
0|0NA20129 : 0|0 |
0|1NA21309 : 0|1 |
|||
full=1ACMG_class : full=1 |
DELSV_type : DEL SV_length : 124 |
splitAnnotation_mode : split |
EYSGene_name : EYS; LOEUF_bin : 4 GnomAD_pLI : 3.7216e-41 ExAC_pLI : 8.2141e-09 HI : 30 TS : . DDD_HI_percent : 25.63 ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : -1.88695284058313 ExAC_misZ : -2.92292976137105 GenCC_disease : EYS-related retinopathy; retinitis pigmentosa; retinitis pigmentosa 25 GenCC_moi : AD; AR GenCC_classification : Definitive; Strong; Supportive GenCC_pmid : 18836446; 18976725; 20301590[PMID]; 20333770; 23591405; 27375351; 28678594; 9585594 NCBI_gene_ID : 346007 |
intron5-intron5Location : intron5-intron5 CytoBand : q12 Location2 : CDS Tx : NM_001142800 Tx_version : 2 Tx_start : 63719979 Tx_end : 65707226 Exon_count : 43 Overlapped_tx_length : 124 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 11504 Nearest_SS_type : 5' Intersect_start : 65478965 Intersect_end : 65479089 |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
CMRI:3_pbsv.DEL.1378_duplicate3; HPRC:pbsv.DE[...]B_loss_source : CMRI:3_pbsv.DEL.1378_duplicate3; HPRC:pbsv.DEL.4756; dbVar B_loss_coord : chr6:65203540-65636799; chr6:65284956-66872862; 6:65478966-65479090; chr6:65478966-65479090; chr6:65478966-65479090 B_loss_AFmax : 0.3506 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
CHM13,HG00438,HG00733,HG01106,HG01123,HG01175[...]Samples_ID : CHM13,HG00438,HG00733,HG01106,HG01123,HG01175,HG01243,HG01952,HG01978,HG03492,NA21309 |
>30018422>30018424ID : >30018422>30018424 |
GTAAACTCAGAAATTTATCCAACGAAATTATCTAATCTGTAGAAT[...]REF : GTAAACTCAGAAATTTATCCAACGAAATTATCTAATCTGTAGAATAGTGAGAGGACCACAAATGGTTGAACTAAAATGAATAGAGCCTCAGTGACCAGTAGGAGAATTCTTAATCTACCATACCA |
GALT : G |
60QUAL : 60 |
.FILTER : . |
AC=12; AF=0.134831; AN=89; AT=>30018422>[...]INFO : AC=12; AF=0.134831; AN=89; AT=>30018422>30018423>30018424,>30018422>30018424; LV=0; NS=45; e=65479090; s=124; rC=LINE/L1 |
GTFORMAT : GT |
0CHM13 : 0 |
1|1HG00438 : 1|1 |
0|0HG00621 : 0|0 |
0|0HG00673 : 0|0 |
0|1HG00733 : 0|1 |
0|0HG00735 : 0|0 |
0|0HG00741 : 0|0 |
0|0HG01071 : 0|0 |
1|0HG01106 : 1|0 |
0|0HG01109 : 0|0 |
1|0HG01123 : 1|0 |
1|1HG01175 : 1|1 |
1|0HG01243 : 1|0 |
0|0HG01258 : 0|0 |
0|0HG01358 : 0|0 |
0|0HG01361 : 0|0 |
0|0HG01891 : 0|0 |
0|0HG01928 : 0|0 |
0|1HG01952 : 0|1 |
0|1HG01978 : 0|1 |
0|0HG02055 : 0|0 |
0|0HG02080 : 0|0 |
0|0HG02109 : 0|0 |
0|0HG02145 : 0|0 |
0|0HG02148 : 0|0 |
0|0HG02257 : 0|0 |
0|0HG02486 : 0|0 |
0|0HG02559 : 0|0 |
0|0HG02572 : 0|0 |
0|0HG02622 : 0|0 |
0|0HG02630 : 0|0 |
0|0HG02717 : 0|0 |
0|0HG02723 : 0|0 |
0|0HG02818 : 0|0 |
0|0HG02886 : 0|0 |
0|0HG03098 : 0|0 |
0|0HG03453 : 0|0 |
0|0HG03486 : 0|0 |
0|1HG03492 : 0|1 |
0|0HG03516 : 0|0 |
0|0HG03540 : 0|0 |
0|0HG03579 : 0|0 |
0|0NA18906 : 0|0 |
0|0NA20129 : 0|0 |
0|1NA21309 : 0|1 |
||
1ACMG_class : 1 AnnotSV_ranking_score : -1.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2F/4O (cf B_loss_source, -1.00): Completely contained within an established benign CNV region. 2B (cf po_P_loss_source, HI and OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 2C-2 (PAPPA2,+0.00): Partial overlap with the 5' end of an established HI gene / morbid gene (3' end of the gene not involved) and only the 5' UTR is involved 3A (1 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 556 Gene_count : 1 |
fullAnnotation_mode : full |
PAPPA2Gene_name : PAPPA2; LOEUF_bin : 2 GnomAD_pLI : 7.7879e-08 ExAC_pLI : 1.2501e-03 HI : . TS : . DDD_HI_percent : 46.27 ExAC_cnvZ : 0.877117721466105 ExAC_delZ : -0.12136013905314 ExAC_dupZ : 1.45343378844928 ExAC_synZ : 0.443411420336903 ExAC_misZ : 0.299864498733898 Closest_left : LOC124904756 Closest_right : ASTN1 |
.Location : . CytoBand : q25.2 |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15129680; dbVar:nssv15156891; dbVar:nssv15141825; dbVar:nssv15135159; dbVar:nssv17970241; dbVar:nssv15139640; dbVar:nssv15138384; dbVar:nssv17970264; dbVar:nssv15754919; dbVar:nssv15140038; dbVar:nssv15157540; dbVar:nssv15133418 po_P_loss_coord : 1:120836008-206268643; 1:159845853-177057847; 1:161707104-184102589; 1:169218237-178075834; 1:169904015-181854845; 1:170036069-187555148; 1:170929721-191065409; 1:172020890-195117628; 1:172683204-183569154; 1:172773813-181845361; 1:173162770-187437400; 1:175035041-186042595 po_P_loss_percent : 0.00; 0.00; 0.00; 0.01; 0.00; 0.00; 0.00; 0.00; 0.01; 0.01; 0.00; 0.01 |
.P_snvindel_nb : . P_snvindel_phen : . |
gnomAD-SV_v3_DEL_chr1_339fd21dB_loss_source : gnomAD-SV_v3_DEL_chr1_339fd21d B_loss_coord : chr1:168349020-187167586 B_loss_AFmax : 0.9262 po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : 1:176509081-176509637 CMRI:0_pbsv.DEL.2042; chr1:176509081-176509637 dbVar; chr1:176509096-176509637 gnomAD-SV_v3_DEL_chr1_54794de2 po_B_loss_someG_coord : chr1:168349020-187167586 gnomAD-SV_v3_DEL_chr1_339fd21d; chr1:176509081-176509637 HPRC:pbsv.DEL.11167; chr1:176509096-176509637 dbVar |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 1:176508990-176509030; 1:176509041-176509094; 1:176509101-176509267 Repeat_type_left : L1ME1; (AATATAT)n; MSTA Gap_left : . GC_content_left : 0.325 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 1:176509316-176509635; 1:176509652-176509721; 1:176509722-176510067 Repeat_type_right : THE1D; L1ME1; AluJb Gap_right : . GC_content_right : 0.410 |
CHM13,HG00438,HG00621,HG00673,HG00733,HG00735[...]Samples_ID : CHM13,HG00438,HG00621,HG00673,HG00733,HG00735,HG00741,HG01071,HG01106,HG01109,HG01123,HG01175,HG01243,HG01258,HG01358,HG01361,HG01891,HG01928,HG01952,HG01978,HG02055,HG02080,HG02109,HG02145,HG02148,HG02257,HG02486,HG02559,HG02572,HG02622,HG02630,HG02717,HG02723,HG02818,HG02886,HG03098,HG03453,HG03486,HG03492,HG03516,HG03540,HG03579,NA18906,NA20129,NA21309 |
>4707006>4707008ID : >4707006>4707008 |
TGATGCACTATTTAATCAGAGGTCAGATGAGAAGTGGCTCACTAT[...]REF : TGATGCACTATTTAATCAGAGGTCAGATGAGAAGTGGCTCACTATCATGAGAACAGCAAGGGAGAAATCCACCCCCATGATTCAATCATTTCCCACGAGGTCACTCCCCCAACATGTGAGGATGACAATTTGATATGAGACTTGGGTGGGAACACAGAGCCACACCATATCATCTAACATATATATATGTCAGACTGCTTGAAATTTTTCCAAAAGCCATTGTATTAGTCCGTTTTCACACTGCTATAAAGAACTACCTGAGACTGAGTAATTTATTTTTTAAAAAAAAGGTCTAATTGATTCACAGCTCCACATGGCTGAGGAAGCCTCAGGACACTTATGATCATGGCAGAAGATGATGGCGAAGCAAGGCACATATTCCATGGCAGCAGGAGGGAGAGGGTGAAGGGGGACAGTGTTACACTTTTAAACAAAATGATCTCATAAGAACTCACTCACTATCATGAGAACAGCAAGGGAGAAATCCACCCCCATGATTCAATCATTTCCCACGAGGTCGCTCCCCCAACATGTGAGGATGAAATTAGAGAATATGT |
TALT : T |
60QUAL : 60 |
.FILTER : . |
AC=89; AF=1; AN=89; AT=>4707006>4707007[...]INFO : AC=89; AF=1; AN=89; AT=>4707006>4707007>4707008,>4707006>4707008; LV=0; NS=45; e=176509652; s=556; rC=LTR/ERV |
GTFORMAT : GT |
1CHM13 : 1 |
1|1HG00438 : 1|1 |
1|1HG00621 : 1|1 |
1|1HG00673 : 1|1 |
1|1HG00733 : 1|1 |
1|1HG00735 : 1|1 |
1|1HG00741 : 1|1 |
1|1HG01071 : 1|1 |
1|1HG01106 : 1|1 |
1|1HG01109 : 1|1 |
1|1HG01123 : 1|1 |
1|1HG01175 : 1|1 |
1|1HG01243 : 1|1 |
1|1HG01258 : 1|1 |
1|1HG01358 : 1|1 |
1|1HG01361 : 1|1 |
1|1HG01891 : 1|1 |
1|1HG01928 : 1|1 |
1|1HG01952 : 1|1 |
1|1HG01978 : 1|1 |
1|1HG02055 : 1|1 |
1|1HG02080 : 1|1 |
1|1HG02109 : 1|1 |
1|1HG02145 : 1|1 |
1|1HG02148 : 1|1 |
1|1HG02257 : 1|1 |
1|1HG02486 : 1|1 |
1|1HG02559 : 1|1 |
1|1HG02572 : 1|1 |
1|1HG02622 : 1|1 |
1|1HG02630 : 1|1 |
1|1HG02717 : 1|1 |
1|1HG02723 : 1|1 |
1|1HG02818 : 1|1 |
1|1HG02886 : 1|1 |
1|1HG03098 : 1|1 |
1|1HG03453 : 1|1 |
1|1HG03486 : 1|1 |
1|1HG03492 : 1|1 |
1|1HG03516 : 1|1 |
1|1HG03540 : 1|1 |
1|1HG03579 : 1|1 |
1|1NA18906 : 1|1 |
1|1NA20129 : 1|1 |
1|1NA21309 : 1|1 |
||
full=1ACMG_class : full=1 |
DELSV_type : DEL SV_length : 556 |
splitAnnotation_mode : split |
PAPPA2Gene_name : PAPPA2; LOEUF_bin : 2 GnomAD_pLI : 7.7879e-08 ExAC_pLI : 1.2501e-03 HI : . TS : . DDD_HI_percent : 46.27 ACMG : . ExAC_cnvZ : 0.877117721466105 ExAC_delZ : -0.12136013905314 ExAC_dupZ : 1.45343378844928 ExAC_synZ : 0.443411420336903 ExAC_misZ : 0.299864498733898 GenCC_disease : Short stature, Dauber-Argente type GenCC_moi : AR GenCC_classification : Moderate; Strong GenCC_pmid : 26902202; 30977789 NCBI_gene_ID : 60676 |
intron1-intron1Location : intron1-intron1 CytoBand : q25.2 Location2 : 5'UTR Tx : NM_021936 Tx_version : 3 Tx_start : 176463174 Tx_end : 176691205 Exon_count : 5 Overlapped_tx_length : 556 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 45677 Nearest_SS_type : 5' Intersect_start : 176509095 Intersect_end : 176509651 |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
gnomAD-SV_v3_DEL_chr1_339fd21dB_loss_source : gnomAD-SV_v3_DEL_chr1_339fd21d B_loss_coord : chr1:168349020-187167586 B_loss_AFmax : 0.9262 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
CHM13,HG00438,HG00621,HG00673,HG00733,HG00735[...]Samples_ID : CHM13,HG00438,HG00621,HG00673,HG00733,HG00735,HG00741,HG01071,HG01106,HG01109,HG01123,HG01175,HG01243,HG01258,HG01358,HG01361,HG01891,HG01928,HG01952,HG01978,HG02055,HG02080,HG02109,HG02145,HG02148,HG02257,HG02486,HG02559,HG02572,HG02622,HG02630,HG02717,HG02723,HG02818,HG02886,HG03098,HG03453,HG03486,HG03492,HG03516,HG03540,HG03579,NA18906,NA20129,NA21309 |
>4707006>4707008ID : >4707006>4707008 |
TGATGCACTATTTAATCAGAGGTCAGATGAGAAGTGGCTCACTAT[...]REF : TGATGCACTATTTAATCAGAGGTCAGATGAGAAGTGGCTCACTATCATGAGAACAGCAAGGGAGAAATCCACCCCCATGATTCAATCATTTCCCACGAGGTCACTCCCCCAACATGTGAGGATGACAATTTGATATGAGACTTGGGTGGGAACACAGAGCCACACCATATCATCTAACATATATATATGTCAGACTGCTTGAAATTTTTCCAAAAGCCATTGTATTAGTCCGTTTTCACACTGCTATAAAGAACTACCTGAGACTGAGTAATTTATTTTTTAAAAAAAAGGTCTAATTGATTCACAGCTCCACATGGCTGAGGAAGCCTCAGGACACTTATGATCATGGCAGAAGATGATGGCGAAGCAAGGCACATATTCCATGGCAGCAGGAGGGAGAGGGTGAAGGGGGACAGTGTTACACTTTTAAACAAAATGATCTCATAAGAACTCACTCACTATCATGAGAACAGCAAGGGAGAAATCCACCCCCATGATTCAATCATTTCCCACGAGGTCGCTCCCCCAACATGTGAGGATGAAATTAGAGAATATGT |
TALT : T |
60QUAL : 60 |
.FILTER : . |
AC=89; AF=1; AN=89; AT=>4707006>4707007[...]INFO : AC=89; AF=1; AN=89; AT=>4707006>4707007>4707008,>4707006>4707008; LV=0; NS=45; e=176509652; s=556; rC=LTR/ERV |
GTFORMAT : GT |
1CHM13 : 1 |
1|1HG00438 : 1|1 |
1|1HG00621 : 1|1 |
1|1HG00673 : 1|1 |
1|1HG00733 : 1|1 |
1|1HG00735 : 1|1 |
1|1HG00741 : 1|1 |
1|1HG01071 : 1|1 |
1|1HG01106 : 1|1 |
1|1HG01109 : 1|1 |
1|1HG01123 : 1|1 |
1|1HG01175 : 1|1 |
1|1HG01243 : 1|1 |
1|1HG01258 : 1|1 |
1|1HG01358 : 1|1 |
1|1HG01361 : 1|1 |
1|1HG01891 : 1|1 |
1|1HG01928 : 1|1 |
1|1HG01952 : 1|1 |
1|1HG01978 : 1|1 |
1|1HG02055 : 1|1 |
1|1HG02080 : 1|1 |
1|1HG02109 : 1|1 |
1|1HG02145 : 1|1 |
1|1HG02148 : 1|1 |
1|1HG02257 : 1|1 |
1|1HG02486 : 1|1 |
1|1HG02559 : 1|1 |
1|1HG02572 : 1|1 |
1|1HG02622 : 1|1 |
1|1HG02630 : 1|1 |
1|1HG02717 : 1|1 |
1|1HG02723 : 1|1 |
1|1HG02818 : 1|1 |
1|1HG02886 : 1|1 |
1|1HG03098 : 1|1 |
1|1HG03453 : 1|1 |
1|1HG03486 : 1|1 |
1|1HG03492 : 1|1 |
1|1HG03516 : 1|1 |
1|1HG03540 : 1|1 |
1|1HG03579 : 1|1 |
1|1NA18906 : 1|1 |
1|1NA20129 : 1|1 |
1|1NA21309 : 1|1 |
||
1ACMG_class : 1 AnnotSV_ranking_score : -1.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2F/4O (cf B_loss_source, -1.00): Completely contained within an established benign CNV region. 2B (cf po_P_loss_source, HI and OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 3A (1 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 347 Gene_count : 1 |
fullAnnotation_mode : full |
LOC105372544Gene_name : LOC105372544; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . Closest_left : OTOR Closest_right : LOC105372545 |
.Location : . CytoBand : p12.1 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv16208567 po_P_loss_coord : 20:8591050-22108012 po_P_loss_percent : 0.00 |
.P_snvindel_nb : . P_snvindel_phen : . |
CMRI:0_pbsv.DEL.225_duplicate5; dbVarB_loss_source : CMRI:0_pbsv.DEL.225_duplicate5; dbVar B_loss_coord : 20:17122806-17123153; chr20:17122806-17123153 B_loss_AFmax : 0.9801 po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : chr20:17122806-17123128 gnomAD-SV_v3_DEL_chr20_a6b8b5f3; 20:17122806-17123153 CMRI:0_pbsv.DEL.225_duplicate5; po_B_loss_someG_coord : chr20:17122806-17123128 dbVar; chr20:17122806-17123150 HPRC:pbsv.DEL.1295; chr20:17122806-17123153 dbVar |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:17121234-17122803; 20:17122804-17123129 Repeat_type_left : L1MC3; AluYa5 Gap_left : . GC_content_left : 0.350 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:17122804-17123129; 20:17123130-17123413 Repeat_type_right : AluYa5; L1MC3 Gap_right : . GC_content_right : 0.440 |
CHM13,HG00438,HG00621,HG00673,HG00733,HG00735[...]Samples_ID : CHM13,HG00438,HG00621,HG00673,HG00733,HG00735,HG00741,HG01071,HG01106,HG01109,HG01123,HG01175,HG01243,HG01258,HG01358,HG01361,HG01891,HG01928,HG01952,HG01978,HG02055,HG02080,HG02109,HG02145,HG02148,HG02257,HG02486,HG02559,HG02572,HG02622,HG02630,HG02717,HG02723,HG02818,HG02886,HG03098,HG03453,HG03486,HG03492,HG03516,HG03540,HG03579,NA18906,NA20129,NA21309 |
>73463907>73463909ID : >73463907>73463909 |
TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAG[...]REF : TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTCTTATTCACTTCTTTAAAAAAAA |
TALT : T |
60QUAL : 60 |
.FILTER : . |
AC=89; AF=1; AN=89; AT=>73463907>734639[...]INFO : AC=89; AF=1; AN=89; AT=>73463907>73463908>73463909,>73463907>73463909; LV=0; NS=45; e=17123153; s=347; rC=SINE/Alu |
GTFORMAT : GT |
1CHM13 : 1 |
1|1HG00438 : 1|1 |
1|1HG00621 : 1|1 |
1|1HG00673 : 1|1 |
1|1HG00733 : 1|1 |
1|1HG00735 : 1|1 |
1|1HG00741 : 1|1 |
1|1HG01071 : 1|1 |
1|1HG01106 : 1|1 |
1|1HG01109 : 1|1 |
1|1HG01123 : 1|1 |
1|1HG01175 : 1|1 |
1|1HG01243 : 1|1 |
1|1HG01258 : 1|1 |
1|1HG01358 : 1|1 |
1|1HG01361 : 1|1 |
1|1HG01891 : 1|1 |
1|1HG01928 : 1|1 |
1|1HG01952 : 1|1 |
1|1HG01978 : 1|1 |
1|1HG02055 : 1|1 |
1|1HG02080 : 1|1 |
1|1HG02109 : 1|1 |
1|1HG02145 : 1|1 |
1|1HG02148 : 1|1 |
1|1HG02257 : 1|1 |
1|1HG02486 : 1|1 |
1|1HG02559 : 1|1 |
1|1HG02572 : 1|1 |
1|1HG02622 : 1|1 |
1|1HG02630 : 1|1 |
1|1HG02717 : 1|1 |
1|1HG02723 : 1|1 |
1|1HG02818 : 1|1 |
1|1HG02886 : 1|1 |
1|1HG03098 : 1|1 |
1|1HG03453 : 1|1 |
1|1HG03486 : 1|1 |
1|1HG03492 : 1|1 |
1|1HG03516 : 1|1 |
1|1HG03540 : 1|1 |
1|1HG03579 : 1|1 |
1|1NA18906 : 1|1 |
1|1NA20129 : 1|1 |
1|1NA21309 : 1|1 |
|
full=1ACMG_class : full=1 |
DELSV_type : DEL SV_length : 347 |
splitAnnotation_mode : split |
LOC105372544Gene_name : LOC105372544; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
intron1-intron1Location : intron1-intron1 CytoBand : p12.1 Location2 : UTR Tx : XR_937288 Tx_version : 2 Tx_start : 17122177 Tx_end : 17152512 Exon_count : 3 Overlapped_tx_length : 347 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 571 Nearest_SS_type : 5' Intersect_start : 17122805 Intersect_end : 17123152 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
CMRI:0_pbsv.DEL.225_duplicate5; dbVarB_loss_source : CMRI:0_pbsv.DEL.225_duplicate5; dbVar B_loss_coord : 20:17122806-17123153; chr20:17122806-17123153 B_loss_AFmax : 0.9801 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
CHM13,HG00438,HG00621,HG00673,HG00733,HG00735[...]Samples_ID : CHM13,HG00438,HG00621,HG00673,HG00733,HG00735,HG00741,HG01071,HG01106,HG01109,HG01123,HG01175,HG01243,HG01258,HG01358,HG01361,HG01891,HG01928,HG01952,HG01978,HG02055,HG02080,HG02109,HG02145,HG02148,HG02257,HG02486,HG02559,HG02572,HG02622,HG02630,HG02717,HG02723,HG02818,HG02886,HG03098,HG03453,HG03486,HG03492,HG03516,HG03540,HG03579,NA18906,NA20129,NA21309 |
>73463907>73463909ID : >73463907>73463909 |
TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAG[...]REF : TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTCTTATTCACTTCTTTAAAAAAAA |
TALT : T |
60QUAL : 60 |
.FILTER : . |
AC=89; AF=1; AN=89; AT=>73463907>734639[...]INFO : AC=89; AF=1; AN=89; AT=>73463907>73463908>73463909,>73463907>73463909; LV=0; NS=45; e=17123153; s=347; rC=SINE/Alu |
GTFORMAT : GT |
1CHM13 : 1 |
1|1HG00438 : 1|1 |
1|1HG00621 : 1|1 |
1|1HG00673 : 1|1 |
1|1HG00733 : 1|1 |
1|1HG00735 : 1|1 |
1|1HG00741 : 1|1 |
1|1HG01071 : 1|1 |
1|1HG01106 : 1|1 |
1|1HG01109 : 1|1 |
1|1HG01123 : 1|1 |
1|1HG01175 : 1|1 |
1|1HG01243 : 1|1 |
1|1HG01258 : 1|1 |
1|1HG01358 : 1|1 |
1|1HG01361 : 1|1 |
1|1HG01891 : 1|1 |
1|1HG01928 : 1|1 |
1|1HG01952 : 1|1 |
1|1HG01978 : 1|1 |
1|1HG02055 : 1|1 |
1|1HG02080 : 1|1 |
1|1HG02109 : 1|1 |
1|1HG02145 : 1|1 |
1|1HG02148 : 1|1 |
1|1HG02257 : 1|1 |
1|1HG02486 : 1|1 |
1|1HG02559 : 1|1 |
1|1HG02572 : 1|1 |
1|1HG02622 : 1|1 |
1|1HG02630 : 1|1 |
1|1HG02717 : 1|1 |
1|1HG02723 : 1|1 |
1|1HG02818 : 1|1 |
1|1HG02886 : 1|1 |
1|1HG03098 : 1|1 |
1|1HG03453 : 1|1 |
1|1HG03486 : 1|1 |
1|1HG03492 : 1|1 |
1|1HG03516 : 1|1 |
1|1HG03540 : 1|1 |
1|1HG03579 : 1|1 |
1|1NA18906 : 1|1 |
1|1NA20129 : 1|1 |
1|1NA21309 : 1|1 |
|
1ACMG_class : 1 AnnotSV_ranking_score : -1.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2F/4O (cf B_loss_source, -1.00): Completely contained within an established benign CNV region. 2B (cf po_P_loss_source, HI and OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 3A (1 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 651 Gene_count : 1 |
fullAnnotation_mode : full |
CEACAM22PGene_name : CEACAM22P; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . Closest_left : CEACAM20 Closest_right : IGSF23 |
.Location : . CytoBand : q13.31 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15147682 po_P_loss_coord : 19:42509214-46738277 po_P_loss_percent : 0.02 |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_loss_source : dbVar B_loss_coord : chr19:44522391-44555906 B_loss_AFmax : 0.01 po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : 19:44546227-44546890 CMRI:0_pbsv.DEL.831_duplicate9; chr19:44546246-44546890 gnomAD-SV_v3_DEL_chr19_a89526d0 po_B_loss_someG_coord : chr19:44522391-44555906 dbVar; chr19:44546227-44546890 HPRC:pbsv.DEL.5179 |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 19:44546242-44546318; 19:44546319-44546890 Repeat_type_left : (T)n; L1HS Gap_left : . GC_content_left : 0.170 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 19:44546319-44546890 Repeat_type_right : L1HS Gap_right : . GC_content_right : 0.325 |
CHM13,HG00438,HG00621,HG00673,HG00733,HG00735[...]Samples_ID : CHM13,HG00438,HG00621,HG00673,HG00733,HG00735,HG00741,HG01071,HG01106,HG01109,HG01123,HG01175,HG01243,HG01258,HG01358,HG01361,HG01891,HG01928,HG01952,HG01978,HG02055,HG02080,HG02109,HG02145,HG02148,HG02257,HG02486,HG02559,HG02572,HG02622,HG02630,HG02717,HG02723,HG02818,HG02886,HG03098,HG03453,HG03486,HG03492,HG03516,HG03540,HG03579,NA18906,NA20129,NA21309 |
>70691419>70691422ID : >70691419>70691422 |
TTTTTTTTTTTTTTTTTTTTAAGTTTCCTTGTATTTTGAATTCTT[...]REF : TTTTTTTTTTTTTTTTTTTTAAGTTTCCTTGTATTTTGAATTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTATACTCTAAGTTTTAGGGTACATGTGCACATTGTGCAGGTTAGTTACATATGTATACATGTGCCATGCTGGTGCACTGCACCCACTAATGTGTCATCTAGCATTAGGTATATCTCCCAATGCTATCCCTCCCCCCTCCCCCGACCCCACCACAGTCCCCAGAGTGTGATATTCCCCTTCCTGGGTCCATGTGATCTCATTGTTCAATTCCCACCTATGAGTGAGAATATGCGGTGTTTGGTTTTTTGTTCTTGCGATAGTTTACTGAGAATGATGGTTTCCAATTTCATCCATGTCCCTACAAAGGATATGAACTCATCATTTTTTATGGCTGCATAGTATTCCATGGTGTATATGTGCCACATTTTCTTAATCCAGTCTATCATTGTTGGACATTTGGGTTGGTTCCAAGTCTTTGCTATTGTGAATAGTGCCGCAATAAACATACGTGTGCATGTGTCTTTATAGCAGCATGATTTATACTCATTTGGGTATATACCCAGTAATGGGATGGCTGGGTCAAATGGTATTTCTAGTTCTAGATCCCTGAGGAATCGGGTGGCATATAATAT |
TALT : T |
60QUAL : 60 |
.FILTER : . |
AC=89; AF=1; AN=89; AT=>70691419>706914[...]INFO : AC=89; AF=1; AN=89; AT=>70691419>70691420>70691421>70691422,>70691419>70691422; LV=0; NS=45; e=44546905; s=651; rC=LINE/L1 |
GTFORMAT : GT |
1CHM13 : 1 |
1|1HG00438 : 1|1 |
1|1HG00621 : 1|1 |
1|1HG00673 : 1|1 |
1|1HG00733 : 1|1 |
1|1HG00735 : 1|1 |
1|1HG00741 : 1|1 |
1|1HG01071 : 1|1 |
1|1HG01106 : 1|1 |
1|1HG01109 : 1|1 |
1|1HG01123 : 1|1 |
1|1HG01175 : 1|1 |
1|1HG01243 : 1|1 |
1|1HG01258 : 1|1 |
1|1HG01358 : 1|1 |
1|1HG01361 : 1|1 |
1|1HG01891 : 1|1 |
1|1HG01928 : 1|1 |
1|1HG01952 : 1|1 |
1|1HG01978 : 1|1 |
1|1HG02055 : 1|1 |
1|1HG02080 : 1|1 |
1|1HG02109 : 1|1 |
1|1HG02145 : 1|1 |
1|1HG02148 : 1|1 |
1|1HG02257 : 1|1 |
1|1HG02486 : 1|1 |
1|1HG02559 : 1|1 |
1|1HG02572 : 1|1 |
1|1HG02622 : 1|1 |
1|1HG02630 : 1|1 |
1|1HG02717 : 1|1 |
1|1HG02723 : 1|1 |
1|1HG02818 : 1|1 |
1|1HG02886 : 1|1 |
1|1HG03098 : 1|1 |
1|1HG03453 : 1|1 |
1|1HG03486 : 1|1 |
1|1HG03492 : 1|1 |
1|1HG03516 : 1|1 |
1|1HG03540 : 1|1 |
1|1HG03579 : 1|1 |
1|1NA18906 : 1|1 |
1|1NA20129 : 1|1 |
1|1NA21309 : 1|1 |
|
full=1ACMG_class : full=1 |
DELSV_type : DEL SV_length : 651 |
splitAnnotation_mode : split |
CEACAM22PGene_name : CEACAM22P; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 388550 |
intron3-intron3Location : intron3-intron3 CytoBand : q13.31 Location2 : UTR Tx : NR_027754 Tx_version : 2 Tx_start : 44537057 Tx_end : 44556917 Exon_count : 8 Overlapped_tx_length : 651 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 274 Nearest_SS_type : 5' Intersect_start : 44546253 Intersect_end : 44546904 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_loss_source : dbVar B_loss_coord : chr19:44522391-44555906 B_loss_AFmax : 0.01 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
CHM13,HG00438,HG00621,HG00673,HG00733,HG00735[...]Samples_ID : CHM13,HG00438,HG00621,HG00673,HG00733,HG00735,HG00741,HG01071,HG01106,HG01109,HG01123,HG01175,HG01243,HG01258,HG01358,HG01361,HG01891,HG01928,HG01952,HG01978,HG02055,HG02080,HG02109,HG02145,HG02148,HG02257,HG02486,HG02559,HG02572,HG02622,HG02630,HG02717,HG02723,HG02818,HG02886,HG03098,HG03453,HG03486,HG03492,HG03516,HG03540,HG03579,NA18906,NA20129,NA21309 |
>70691419>70691422ID : >70691419>70691422 |
TTTTTTTTTTTTTTTTTTTTAAGTTTCCTTGTATTTTGAATTCTT[...]REF : TTTTTTTTTTTTTTTTTTTTAAGTTTCCTTGTATTTTGAATTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTATACTCTAAGTTTTAGGGTACATGTGCACATTGTGCAGGTTAGTTACATATGTATACATGTGCCATGCTGGTGCACTGCACCCACTAATGTGTCATCTAGCATTAGGTATATCTCCCAATGCTATCCCTCCCCCCTCCCCCGACCCCACCACAGTCCCCAGAGTGTGATATTCCCCTTCCTGGGTCCATGTGATCTCATTGTTCAATTCCCACCTATGAGTGAGAATATGCGGTGTTTGGTTTTTTGTTCTTGCGATAGTTTACTGAGAATGATGGTTTCCAATTTCATCCATGTCCCTACAAAGGATATGAACTCATCATTTTTTATGGCTGCATAGTATTCCATGGTGTATATGTGCCACATTTTCTTAATCCAGTCTATCATTGTTGGACATTTGGGTTGGTTCCAAGTCTTTGCTATTGTGAATAGTGCCGCAATAAACATACGTGTGCATGTGTCTTTATAGCAGCATGATTTATACTCATTTGGGTATATACCCAGTAATGGGATGGCTGGGTCAAATGGTATTTCTAGTTCTAGATCCCTGAGGAATCGGGTGGCATATAATAT |
TALT : T |
60QUAL : 60 |
.FILTER : . |
AC=89; AF=1; AN=89; AT=>70691419>706914[...]INFO : AC=89; AF=1; AN=89; AT=>70691419>70691420>70691421>70691422,>70691419>70691422; LV=0; NS=45; e=44546905; s=651; rC=LINE/L1 |
GTFORMAT : GT |
1CHM13 : 1 |
1|1HG00438 : 1|1 |
1|1HG00621 : 1|1 |
1|1HG00673 : 1|1 |
1|1HG00733 : 1|1 |
1|1HG00735 : 1|1 |
1|1HG00741 : 1|1 |
1|1HG01071 : 1|1 |
1|1HG01106 : 1|1 |
1|1HG01109 : 1|1 |
1|1HG01123 : 1|1 |
1|1HG01175 : 1|1 |
1|1HG01243 : 1|1 |
1|1HG01258 : 1|1 |
1|1HG01358 : 1|1 |
1|1HG01361 : 1|1 |
1|1HG01891 : 1|1 |
1|1HG01928 : 1|1 |
1|1HG01952 : 1|1 |
1|1HG01978 : 1|1 |
1|1HG02055 : 1|1 |
1|1HG02080 : 1|1 |
1|1HG02109 : 1|1 |
1|1HG02145 : 1|1 |
1|1HG02148 : 1|1 |
1|1HG02257 : 1|1 |
1|1HG02486 : 1|1 |
1|1HG02559 : 1|1 |
1|1HG02572 : 1|1 |
1|1HG02622 : 1|1 |
1|1HG02630 : 1|1 |
1|1HG02717 : 1|1 |
1|1HG02723 : 1|1 |
1|1HG02818 : 1|1 |
1|1HG02886 : 1|1 |
1|1HG03098 : 1|1 |
1|1HG03453 : 1|1 |
1|1HG03486 : 1|1 |
1|1HG03492 : 1|1 |
1|1HG03516 : 1|1 |
1|1HG03540 : 1|1 |
1|1HG03579 : 1|1 |
1|1NA18906 : 1|1 |
1|1NA20129 : 1|1 |
1|1NA21309 : 1|1 |
|
1ACMG_class : 1 AnnotSV_ranking_score : -1.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2F/4O (cf B_loss_source, -1.00): Completely contained within an established benign CNV region. 2B (cf po_P_loss_source, HI and OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 3A (1 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 363 Gene_count : 1 |
fullAnnotation_mode : full |
.Location : . CytoBand : p11.21 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15150750; dbVar:nssv18792749; dbVar:nssv17955800; dbVar:nssv15151907; dbVar:nssv16208662; dbVar:nssv15151600; dbVar:nssv15127405; dbVar:nssv15147565; dbVar:nssv15148923; dbVar:nssv15147522; dbVar:nssv15146528; dbVar:nssv17969148; dbVar:nssv15150379; dbVar:nssv16208986; dbVar:nssv15152480; dbVar:nssv15151881; nssv17969150; dbVar:nssv16208516; dbVar:nssv16208515; dbVar:nssv17955847; dbVar:nssv16254982 po_P_loss_coord : 18:10002-15157837; 18:10002-15400036; 18:10502-15410399; 18:13035-15026310; 18:13035-15330526; 18:13035-15375879; 18:14276-20949945; 18:14317-15328500; 18:48783-14978076; 18:118761-15024003; 18:131701-15121055; 18:136227-14983939; 18:136227-15157837; 18:136227-15175006; 18:136227-15198990; 18:136227-15198991; 18:136227-20949617; 18:136305-15143715; 18:1262334-55587520; 18:7598176-15410899 po_P_loss_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00 |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_loss_source : dbVar B_loss_coord : chr18:14682499-15296001; chr18:14773445-14830619; chr18:14815740-14838589 B_loss_AFmax : 0.01 po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : chr18:14773445-14830619 dbVar; 18:14822942-14823305 CMRI:0_pbsv.DEL.202_duplicate7; chr18:14822956-14823305 gnomAD-SV_v3_DEL_chr18_7aa9cf21 po_B_loss_someG_coord : chr18:14682499-15296001 dbVar; chr18:14815740-14838589 dbVar; chr18:14822942-14823305 HPRC:pbsv.DEL.1158 |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : 18:14807069-14897138; 18:14810884-14822862; 18:14811561-14822892; 18:14822321-14823743 Repeat_coord_left : 18:14822953-14823017; 18:14823018-14823305 Repeat_type_left : (T)n; AluYb8 Gap_left : . GC_content_left : 0.275 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : 18:14807069-14897138; 18:14822321-14823743 Repeat_coord_right : 18:14823018-14823305 Repeat_type_right : AluYb8 Gap_right : . GC_content_right : 0.490 |
CHM13,HG00438,HG00621,HG00673,HG00733,HG00735[...]Samples_ID : CHM13,HG00438,HG00621,HG00673,HG00733,HG00735,HG00741,HG01071,HG01106,HG01109,HG01123,HG01175,HG01243,HG01258,HG01358,HG01361,HG01891,HG01928,HG01952,HG01978,HG02055,HG02080,HG02109,HG02145,HG02148,HG02257,HG02486,HG02559,HG02572,HG02622,HG02630,HG02717,HG02723,HG02818,HG02886,HG03098,HG03453,HG03486,HG03492,HG03516,HG03540,HG03579,NA18906,NA20129,NA21309 |
>69828967>69828965ID : >69828967>69828965 |
TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[...]REF : TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGTCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCACGTGCTTGGTTTT |
TALT : T |
60QUAL : 60 |
.FILTER : . |
AC=89; AF=1; AN=89; AT=>69828967>698289[...]INFO : AC=89; AF=1; AN=89; AT=>69828967>69828966>69828965,>69828967>69828965; LV=0; NS=45; e=14823319; s=363; rC=SINE/Alu |
GTFORMAT : GT |
1CHM13 : 1 |
1|1HG00438 : 1|1 |
1|1HG00621 : 1|1 |
1|1HG00673 : 1|1 |
1|1HG00733 : 1|1 |
1|1HG00735 : 1|1 |
1|1HG00741 : 1|1 |
1|1HG01071 : 1|1 |
1|1HG01106 : 1|1 |
1|1HG01109 : 1|1 |
1|1HG01123 : 1|1 |
1|1HG01175 : 1|1 |
1|1HG01243 : 1|1 |
1|1HG01258 : 1|1 |
1|1HG01358 : 1|1 |
1|1HG01361 : 1|1 |
1|1HG01891 : 1|1 |
1|1HG01928 : 1|1 |
1|1HG01952 : 1|1 |
1|1HG01978 : 1|1 |
1|1HG02055 : 1|1 |
1|1HG02080 : 1|1 |
1|1HG02109 : 1|1 |
1|1HG02145 : 1|1 |
1|1HG02148 : 1|1 |
1|1HG02257 : 1|1 |
1|1HG02486 : 1|1 |
1|1HG02559 : 1|1 |
1|1HG02572 : 1|1 |
1|1HG02622 : 1|1 |
1|1HG02630 : 1|1 |
1|1HG02717 : 1|1 |
1|1HG02723 : 1|1 |
1|1HG02818 : 1|1 |
1|1HG02886 : 1|1 |
1|1HG03098 : 1|1 |
1|1HG03453 : 1|1 |
1|1HG03486 : 1|1 |
1|1HG03492 : 1|1 |
1|1HG03516 : 1|1 |
1|1HG03540 : 1|1 |
1|1HG03579 : 1|1 |
1|1NA18906 : 1|1 |
1|1NA20129 : 1|1 |
1|1NA21309 : 1|1 |
||
full=1ACMG_class : full=1 |
DELSV_type : DEL SV_length : 363 |
splitAnnotation_mode : split |
ANKRD30BGene_name : ANKRD30B; LOEUF_bin : 4 GnomAD_pLI : 1.5988e-21 ExAC_pLI : 1.4947e-09 HI : . TS : . DDD_HI_percent : 95.47 ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : -0.353828210547334 ExAC_misZ : -0.434066748454393 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 374860 |
intron32-intron32Location : intron32-intron32 CytoBand : p11.21 Location2 : CDS Tx : XM_011525665 Tx_version : 3 Tx_start : 14748171 Tx_end : 14848854 Exon_count : 40 Overlapped_tx_length : 363 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 278 Nearest_SS_type : 5' Intersect_start : 14822955 Intersect_end : 14823318 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_loss_source : dbVar B_loss_coord : chr18:14682499-15296001; chr18:14773445-14830619; chr18:14815740-14838589 B_loss_AFmax : 0.01 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
CHM13,HG00438,HG00621,HG00673,HG00733,HG00735[...]Samples_ID : CHM13,HG00438,HG00621,HG00673,HG00733,HG00735,HG00741,HG01071,HG01106,HG01109,HG01123,HG01175,HG01243,HG01258,HG01358,HG01361,HG01891,HG01928,HG01952,HG01978,HG02055,HG02080,HG02109,HG02145,HG02148,HG02257,HG02486,HG02559,HG02572,HG02622,HG02630,HG02717,HG02723,HG02818,HG02886,HG03098,HG03453,HG03486,HG03492,HG03516,HG03540,HG03579,NA18906,NA20129,NA21309 |
>69828967>69828965ID : >69828967>69828965 |
TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[...]REF : TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGTCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCACGTGCTTGGTTTT |
TALT : T |
60QUAL : 60 |
.FILTER : . |
AC=89; AF=1; AN=89; AT=>69828967>698289[...]INFO : AC=89; AF=1; AN=89; AT=>69828967>69828966>69828965,>69828967>69828965; LV=0; NS=45; e=14823319; s=363; rC=SINE/Alu |
GTFORMAT : GT |
1CHM13 : 1 |
1|1HG00438 : 1|1 |
1|1HG00621 : 1|1 |
1|1HG00673 : 1|1 |
1|1HG00733 : 1|1 |
1|1HG00735 : 1|1 |
1|1HG00741 : 1|1 |
1|1HG01071 : 1|1 |
1|1HG01106 : 1|1 |
1|1HG01109 : 1|1 |
1|1HG01123 : 1|1 |
1|1HG01175 : 1|1 |
1|1HG01243 : 1|1 |
1|1HG01258 : 1|1 |
1|1HG01358 : 1|1 |
1|1HG01361 : 1|1 |
1|1HG01891 : 1|1 |
1|1HG01928 : 1|1 |
1|1HG01952 : 1|1 |
1|1HG01978 : 1|1 |
1|1HG02055 : 1|1 |
1|1HG02080 : 1|1 |
1|1HG02109 : 1|1 |
1|1HG02145 : 1|1 |
1|1HG02148 : 1|1 |
1|1HG02257 : 1|1 |
1|1HG02486 : 1|1 |
1|1HG02559 : 1|1 |
1|1HG02572 : 1|1 |
1|1HG02622 : 1|1 |
1|1HG02630 : 1|1 |
1|1HG02717 : 1|1 |
1|1HG02723 : 1|1 |
1|1HG02818 : 1|1 |
1|1HG02886 : 1|1 |
1|1HG03098 : 1|1 |
1|1HG03453 : 1|1 |
1|1HG03486 : 1|1 |
1|1HG03492 : 1|1 |
1|1HG03516 : 1|1 |
1|1HG03540 : 1|1 |
1|1HG03579 : 1|1 |
1|1NA18906 : 1|1 |
1|1NA20129 : 1|1 |
1|1NA21309 : 1|1 |
|
1ACMG_class : 1 AnnotSV_ranking_score : -1.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2F/4O (cf B_loss_source, -1.00): Completely contained within an established benign CNV region. 2B (cf po_P_loss_source, HI and OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 3A (1 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 292 Gene_count : 1 |
fullAnnotation_mode : full |
.Location : . CytoBand : q23.2 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15147241; dbVar:nssv15133204; dbVar:nssv15119906; dbVar:nssv15120347; dbVar:nssv15132549; dbVar:nssv16208474; dbVar:nssv16253958; dbVar:nssv15144781 po_P_loss_coord : 16:70414574-84908120; 16:73049468-82576326; 16:78704276-87819342; 16:78790451-83255421; 16:79455148-81109328; 16:80442715-82364001; 16:80449729-82010547; 16:80589367-81377616 po_P_loss_percent : 0.00; 0.00; 0.00; 0.01; 0.02; 0.02; 0.02; 0.04 |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVar; gnomAD-SV_v3_DEL_chr16_cbe90214B_loss_source : dbVar; gnomAD-SV_v3_DEL_chr16_cbe90214 B_loss_coord : chr16:80814180-82912659; chr16:80954497-81003876; chr16:80965982-80996010 B_loss_AFmax : 0.1717 po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : chr16:80954497-81003876 dbVar; 16:80980230-80980522 CMRI:0_pbsv.DEL.1036_duplicate5; chr16:80980285-80980620 gnomAD-SV_v3_DEL_chr16_bfe57b54 po_B_loss_someG_coord : chr16:80814180-82912659 gnomAD-SV_v3_DEL_chr16_cbe90214; chr16:80965982-80996010 dbVar; chr16:80980230-80980522 HPRC:pbsv.DEL.5852 |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 16:80980316-80980519 Repeat_type_left : AluSp Gap_left : . GC_content_left : 0.340 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 16:80980608-80980913 Repeat_type_right : AluJr Gap_right : . GC_content_right : 0.405 |
CHM13,HG00438,HG00621,HG00673,HG00733,HG00735[...]Samples_ID : CHM13,HG00438,HG00621,HG00673,HG00733,HG00735,HG00741,HG01071,HG01106,HG01109,HG01123,HG01175,HG01243,HG01258,HG01358,HG01361,HG01891,HG01928,HG01952,HG01978,HG02055,HG02080,HG02109,HG02145,HG02148,HG02257,HG02486,HG02559,HG02572,HG02622,HG02630,HG02717,HG02723,HG02818,HG02886,HG03098,HG03453,HG03486,HG03492,HG03516,HG03540,HG03579,NA18906,NA20129,NA21309 |
<64132114<64132116ID : <64132114<64132116 |
TTTGGGAGGCCAAGGTGGGAGGACTCACCCTAGGTGTATTTTTCA[...]REF : TTTGGGAGGCCAAGGTGGGAGGACTCACCCTAGGTGTATTTTTCATGTAAACTGGCTTTTTCATATAAAGGACAAACATTTTTAGTAAATAATTTAAAAACACTAATAAGGCTGGGAATGGTGACTCATGTCTGTAGTCCCAGCACTTTGGGAGGCCAAGGTGGGAGGACTCACCCTAGGTGTATTTTTCATGTAAACTGGCTTTTTCATATAAAGGACAAACATTTTTAGTAAATAATTTAAAAACACTAATAAGGCTGGGAATGGTGACTCATGTCTGTAGTCCCAGCACT |
TALT : T |
60QUAL : 60 |
.FILTER : . |
AC=89; AF=1; AN=89; AT=>64132116>641321[...]INFO : AC=89; AF=1; AN=89; AT=>64132116>64132115>64132114,>64132116>64132114; LV=0; NS=45; e=80980645; s=292; rC=SINE/Alu |
GTFORMAT : GT |
1CHM13 : 1 |
1|1HG00438 : 1|1 |
1|1HG00621 : 1|1 |
1|1HG00673 : 1|1 |
1|1HG00733 : 1|1 |
1|1HG00735 : 1|1 |
1|1HG00741 : 1|1 |
1|1HG01071 : 1|1 |
1|1HG01106 : 1|1 |
1|1HG01109 : 1|1 |
1|1HG01123 : 1|1 |
1|1HG01175 : 1|1 |
1|1HG01243 : 1|1 |
1|1HG01258 : 1|1 |
1|1HG01358 : 1|1 |
1|1HG01361 : 1|1 |
1|1HG01891 : 1|1 |
1|1HG01928 : 1|1 |
1|1HG01952 : 1|1 |
1|1HG01978 : 1|1 |
1|1HG02055 : 1|1 |
1|1HG02080 : 1|1 |
1|1HG02109 : 1|1 |
1|1HG02145 : 1|1 |
1|1HG02148 : 1|1 |
1|1HG02257 : 1|1 |
1|1HG02486 : 1|1 |
1|1HG02559 : 1|1 |
1|1HG02572 : 1|1 |
1|1HG02622 : 1|1 |
1|1HG02630 : 1|1 |
1|1HG02717 : 1|1 |
1|1HG02723 : 1|1 |
1|1HG02818 : 1|1 |
1|1HG02886 : 1|1 |
1|1HG03098 : 1|1 |
1|1HG03453 : 1|1 |
1|1HG03486 : 1|1 |
1|1HG03492 : 1|1 |
1|1HG03516 : 1|1 |
1|1HG03540 : 1|1 |
1|1HG03579 : 1|1 |
1|1NA18906 : 1|1 |
1|1NA20129 : 1|1 |
1|1NA21309 : 1|1 |
||
full=1ACMG_class : full=1 |
DELSV_type : DEL SV_length : 292 |
splitAnnotation_mode : split |
CMC2Gene_name : CMC2; LOEUF_bin : 8 GnomAD_pLI : 1.9910e-01 ExAC_pLI : 1.4921e-03 HI : . TS : . DDD_HI_percent : 29.9 ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : -0.536973104388645 ExAC_misZ : -1.15581934989864 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 56942 |
intron2-intron2Location : intron2-intron2 CytoBand : q23.2 Location2 : CDS Tx : NM_001351973 Tx_version : 2 Tx_start : 80966447 Tx_end : 80997676 Exon_count : 3 Overlapped_tx_length : 292 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 1161 Nearest_SS_type : 5' Intersect_start : 80980352 Intersect_end : 80980644 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVar; gnomAD-SV_v3_DEL_chr16_cbe90214B_loss_source : dbVar; gnomAD-SV_v3_DEL_chr16_cbe90214 B_loss_coord : chr16:80814180-82912659; chr16:80954497-81003876; chr16:80965982-80996010 B_loss_AFmax : 0.1717 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
CHM13,HG00438,HG00621,HG00673,HG00733,HG00735[...]Samples_ID : CHM13,HG00438,HG00621,HG00673,HG00733,HG00735,HG00741,HG01071,HG01106,HG01109,HG01123,HG01175,HG01243,HG01258,HG01358,HG01361,HG01891,HG01928,HG01952,HG01978,HG02055,HG02080,HG02109,HG02145,HG02148,HG02257,HG02486,HG02559,HG02572,HG02622,HG02630,HG02717,HG02723,HG02818,HG02886,HG03098,HG03453,HG03486,HG03492,HG03516,HG03540,HG03579,NA18906,NA20129,NA21309 |
<64132114<64132116ID : <64132114<64132116 |
TTTGGGAGGCCAAGGTGGGAGGACTCACCCTAGGTGTATTTTTCA[...]REF : TTTGGGAGGCCAAGGTGGGAGGACTCACCCTAGGTGTATTTTTCATGTAAACTGGCTTTTTCATATAAAGGACAAACATTTTTAGTAAATAATTTAAAAACACTAATAAGGCTGGGAATGGTGACTCATGTCTGTAGTCCCAGCACTTTGGGAGGCCAAGGTGGGAGGACTCACCCTAGGTGTATTTTTCATGTAAACTGGCTTTTTCATATAAAGGACAAACATTTTTAGTAAATAATTTAAAAACACTAATAAGGCTGGGAATGGTGACTCATGTCTGTAGTCCCAGCACT |
TALT : T |
60QUAL : 60 |
.FILTER : . |
AC=89; AF=1; AN=89; AT=>64132116>641321[...]INFO : AC=89; AF=1; AN=89; AT=>64132116>64132115>64132114,>64132116>64132114; LV=0; NS=45; e=80980645; s=292; rC=SINE/Alu |
GTFORMAT : GT |
1CHM13 : 1 |
1|1HG00438 : 1|1 |
1|1HG00621 : 1|1 |
1|1HG00673 : 1|1 |
1|1HG00733 : 1|1 |
1|1HG00735 : 1|1 |
1|1HG00741 : 1|1 |
1|1HG01071 : 1|1 |
1|1HG01106 : 1|1 |
1|1HG01109 : 1|1 |
1|1HG01123 : 1|1 |
1|1HG01175 : 1|1 |
1|1HG01243 : 1|1 |
1|1HG01258 : 1|1 |
1|1HG01358 : 1|1 |
1|1HG01361 : 1|1 |
1|1HG01891 : 1|1 |
1|1HG01928 : 1|1 |
1|1HG01952 : 1|1 |
1|1HG01978 : 1|1 |
1|1HG02055 : 1|1 |
1|1HG02080 : 1|1 |
1|1HG02109 : 1|1 |
1|1HG02145 : 1|1 |
1|1HG02148 : 1|1 |
1|1HG02257 : 1|1 |
1|1HG02486 : 1|1 |
1|1HG02559 : 1|1 |
1|1HG02572 : 1|1 |
1|1HG02622 : 1|1 |
1|1HG02630 : 1|1 |
1|1HG02717 : 1|1 |
1|1HG02723 : 1|1 |
1|1HG02818 : 1|1 |
1|1HG02886 : 1|1 |
1|1HG03098 : 1|1 |
1|1HG03453 : 1|1 |
1|1HG03486 : 1|1 |
1|1HG03492 : 1|1 |
1|1HG03516 : 1|1 |
1|1HG03540 : 1|1 |
1|1HG03579 : 1|1 |
1|1NA18906 : 1|1 |
1|1NA20129 : 1|1 |
1|1NA21309 : 1|1 |
|
1ACMG_class : 1 AnnotSV_ranking_score : -1.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2F/4O (cf B_loss_source, -1.00): Completely contained within an established benign CNV region. 2B (cf po_P_loss_source, HI and OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 3A (1 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 332 Gene_count : 1 |
fullAnnotation_mode : full |
KIF24Gene_name : KIF24; LOEUF_bin : 4 GnomAD_pLI : 1.3904e-17 ExAC_pLI : 7.5646e-14 HI : . TS : . DDD_HI_percent : 65.85 ExAC_cnvZ : -1.91161315469393 ExAC_delZ : -2.62354415217069 ExAC_dupZ : -0.370267519352593 ExAC_synZ : -0.745003612389619 ExAC_misZ : -1.37644284391606 Closest_left : LOC114224 Closest_right : NUDT2 |
.Location : . CytoBand : p13.3 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15132770 po_P_loss_coord : 9:33572682-36782015 po_P_loss_percent : 0.01 |
.P_snvindel_nb : . P_snvindel_phen : . |
CMRI:1_pbsv.DEL.409_duplicate3; HPRC:pbsv.DEL[...]B_loss_source : CMRI:1_pbsv.DEL.409_duplicate3; HPRC:pbsv.DEL.2153; dbVar; gnomAD-SV_v3_DEL_chr9_36151257; gnomAD-SV_v3_DEL_chr9_cfa52761 B_loss_coord : chr9:12951494-85461681; chr9:34267077-34282789; 9:34274435-34274768; chr9:34274435-34274768; chr9:34274437-34274772 B_loss_AFmax : 0.8845 po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : chr9:34267077-34282789 dbVar; 9:34274435-34274768 CMRI:1_pbsv.DEL.409_duplicate3; chr9:34274437-34274772 gnomAD-SV_v3_DEL_chr9_36151257 po_B_loss_someG_coord : chr9:12951494-85461681 gnomAD-SV_v3_DEL_chr9_cfa52761; chr9:34274430-34274762 dbVar; chr9:34274435-34274768 HPRC:pbsv.DEL.2153 |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : 9:34273008-34275008 Repeat_coord_left : 9:34274314-34274437; 9:34274438-34274735 Repeat_type_left : L1MA1; AluSq2 Gap_left : . GC_content_left : 0.480 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : 9:34273008-34275008 Repeat_coord_right : 9:34274438-34274735; 9:34274736-34275109 Repeat_type_right : AluSq2; L1MA1 Gap_right : . GC_content_right : 0.385 |
CHM13,HG00438,HG00621,HG00673,HG00733,HG00735[...]Samples_ID : CHM13,HG00438,HG00621,HG00673,HG00733,HG00735,HG00741,HG01071,HG01106,HG01109,HG01123,HG01175,HG01243,HG01258,HG01358,HG01361,HG01891,HG01928,HG01952,HG01978,HG02055,HG02080,HG02109,HG02145,HG02148,HG02257,HG02486,HG02572,HG02622,HG02630,HG03098,HG03453,HG03492,HG03516,HG03540,HG03579,NA18906,NA20129,NA21309 |
>42370418>42370416ID : >42370418>42370416 |
AGGCCAGGTGCAGTGGCTCACACCTATAATCCCAGCACTTTGGGA[...]REF : AGGCCAGGTGCAGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGCATCACCTGAGGTCAAGAGTTTGAGACCAGCCTGACCAATATGATGAAACCCCGTCTGTACTAAAAATAGAACAATTAGCCAGGCGTGGTGGCACATGCCTGTAATCCCAGCTACATGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCGAGATCGCAACATTGCACGCCAGCTTGAACAACAAGAGCAAAATCTGTCTCCAAAGAAAAAAAAAAAGAGTAAAGTGAAAGAACTTAAACAAGGATGGATT |
AALT : A |
60QUAL : 60 |
.FILTER : . |
AC=59; AF=0.662921; AN=89; AT=>42370418>[...]INFO : AC=59; AF=0.662921; AN=89; AT=>42370418>42370417>42370416,>42370418>42370416; LV=0; NS=45; e=34274769; s=332; rC=SINE/Alu |
GTFORMAT : GT |
1CHM13 : 1 |
1|1HG00438 : 1|1 |
1|1HG00621 : 1|1 |
1|1HG00673 : 1|1 |
1|1HG00733 : 1|1 |
0|1HG00735 : 0|1 |
1|1HG00741 : 1|1 |
0|1HG01071 : 0|1 |
0|1HG01106 : 0|1 |
1|0HG01109 : 1|0 |
1|1HG01123 : 1|1 |
1|0HG01175 : 1|0 |
1|1HG01243 : 1|1 |
1|1HG01258 : 1|1 |
1|1HG01358 : 1|1 |
1|1HG01361 : 1|1 |
0|1HG01891 : 0|1 |
1|1HG01928 : 1|1 |
1|1HG01952 : 1|1 |
1|1HG01978 : 1|1 |
1|1HG02055 : 1|1 |
1|1HG02080 : 1|1 |
1|0HG02109 : 1|0 |
1|0HG02145 : 1|0 |
1|1HG02148 : 1|1 |
1|1HG02257 : 1|1 |
1|1HG02486 : 1|1 |
0|0HG02559 : 0|0 |
0|1HG02572 : 0|1 |
1|0HG02622 : 1|0 |
1|0HG02630 : 1|0 |
0|0HG02717 : 0|0 |
0|0HG02723 : 0|0 |
0|0HG02818 : 0|0 |
0|0HG02886 : 0|0 |
0|1HG03098 : 0|1 |
0|1HG03453 : 0|1 |
0|0HG03486 : 0|0 |
1|1HG03492 : 1|1 |
1|1HG03516 : 1|1 |
1|0HG03540 : 1|0 |
0|1HG03579 : 0|1 |
0|1NA18906 : 0|1 |
0|1NA20129 : 0|1 |
1|0NA21309 : 1|0 |
|
full=1ACMG_class : full=1 |
DELSV_type : DEL SV_length : 332 |
splitAnnotation_mode : split |
KIF24Gene_name : KIF24; LOEUF_bin : 4 GnomAD_pLI : 1.3904e-17 ExAC_pLI : 7.5646e-14 HI : . TS : . DDD_HI_percent : 65.85 ACMG : . ExAC_cnvZ : -1.91161315469393 ExAC_delZ : -2.62354415217069 ExAC_dupZ : -0.370267519352593 ExAC_synZ : -0.745003612389619 ExAC_misZ : -1.37644284391606 GenCC_disease : schizophrenia GenCC_moi : . GenCC_classification : No Known Disease Relationship GenCC_pmid : . NCBI_gene_ID : 347240 |
intron3-intron3Location : intron3-intron3 CytoBand : p13.3 Location2 : CDS Tx : XM_047423344 Tx_version : 1 Tx_start : 34252379 Tx_end : 34306437 Exon_count : 10 Overlapped_tx_length : 332 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 2506 Nearest_SS_type : 3' Intersect_start : 34274436 Intersect_end : 34274768 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
CMRI:1_pbsv.DEL.409_duplicate3; HPRC:pbsv.DEL[...]B_loss_source : CMRI:1_pbsv.DEL.409_duplicate3; HPRC:pbsv.DEL.2153; dbVar; gnomAD-SV_v3_DEL_chr9_36151257; gnomAD-SV_v3_DEL_chr9_cfa52761 B_loss_coord : chr9:12951494-85461681; chr9:34267077-34282789; 9:34274435-34274768; chr9:34274435-34274768; chr9:34274437-34274772 B_loss_AFmax : 0.8845 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
CHM13,HG00438,HG00621,HG00673,HG00733,HG00735[...]Samples_ID : CHM13,HG00438,HG00621,HG00673,HG00733,HG00735,HG00741,HG01071,HG01106,HG01109,HG01123,HG01175,HG01243,HG01258,HG01358,HG01361,HG01891,HG01928,HG01952,HG01978,HG02055,HG02080,HG02109,HG02145,HG02148,HG02257,HG02486,HG02572,HG02622,HG02630,HG03098,HG03453,HG03492,HG03516,HG03540,HG03579,NA18906,NA20129,NA21309 |
>42370418>42370416ID : >42370418>42370416 |
AGGCCAGGTGCAGTGGCTCACACCTATAATCCCAGCACTTTGGGA[...]REF : AGGCCAGGTGCAGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGCATCACCTGAGGTCAAGAGTTTGAGACCAGCCTGACCAATATGATGAAACCCCGTCTGTACTAAAAATAGAACAATTAGCCAGGCGTGGTGGCACATGCCTGTAATCCCAGCTACATGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCGAGATCGCAACATTGCACGCCAGCTTGAACAACAAGAGCAAAATCTGTCTCCAAAGAAAAAAAAAAAGAGTAAAGTGAAAGAACTTAAACAAGGATGGATT |
AALT : A |
60QUAL : 60 |
.FILTER : . |
AC=59; AF=0.662921; AN=89; AT=>42370418>[...]INFO : AC=59; AF=0.662921; AN=89; AT=>42370418>42370417>42370416,>42370418>42370416; LV=0; NS=45; e=34274769; s=332; rC=SINE/Alu |
GTFORMAT : GT |
1CHM13 : 1 |
1|1HG00438 : 1|1 |
1|1HG00621 : 1|1 |
1|1HG00673 : 1|1 |
1|1HG00733 : 1|1 |
0|1HG00735 : 0|1 |
1|1HG00741 : 1|1 |
0|1HG01071 : 0|1 |
0|1HG01106 : 0|1 |
1|0HG01109 : 1|0 |
1|1HG01123 : 1|1 |
1|0HG01175 : 1|0 |
1|1HG01243 : 1|1 |
1|1HG01258 : 1|1 |
1|1HG01358 : 1|1 |
1|1HG01361 : 1|1 |
0|1HG01891 : 0|1 |
1|1HG01928 : 1|1 |
1|1HG01952 : 1|1 |
1|1HG01978 : 1|1 |
1|1HG02055 : 1|1 |
1|1HG02080 : 1|1 |
1|0HG02109 : 1|0 |
1|0HG02145 : 1|0 |
1|1HG02148 : 1|1 |
1|1HG02257 : 1|1 |
1|1HG02486 : 1|1 |
0|0HG02559 : 0|0 |
0|1HG02572 : 0|1 |
1|0HG02622 : 1|0 |
1|0HG02630 : 1|0 |
0|0HG02717 : 0|0 |
0|0HG02723 : 0|0 |
0|0HG02818 : 0|0 |
0|0HG02886 : 0|0 |
0|1HG03098 : 0|1 |
0|1HG03453 : 0|1 |
0|0HG03486 : 0|0 |
1|1HG03492 : 1|1 |
1|1HG03516 : 1|1 |
1|0HG03540 : 1|0 |
0|1HG03579 : 0|1 |
0|1NA18906 : 0|1 |
0|1NA20129 : 0|1 |
1|0NA21309 : 1|0 |
|
1ACMG_class : 1 AnnotSV_ranking_score : -1.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2F/4O (cf B_loss_source, -1.00): Completely contained within an established benign CNV region. 2B (cf po_P_loss_source, HI and OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 3A (1 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 144 Gene_count : 1 |
fullAnnotation_mode : full |
LOC124901685Gene_name : LOC124901685; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . Closest_left : LOC107986812 Closest_right : CD36 |
.Location : . CytoBand : q21.11 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15161318; dbVar:nssv15146320; dbVar:nssv15147202; dbVar:nssv15148954; dbVar:nssv15167751; dbVar:nssv17970227; dbVar:nssv15124457 po_P_loss_coord : 7:54186-159282390; 7:71225345-81735657; 7:73873421-83988860; 7:74377396-82031742; 7:75959387-80648316; 7:77681328-84831773; 7:79708364-87161076 po_P_loss_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00 |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_loss_source : dbVar B_loss_coord : chr7:80423736-80562669; chr7:80453738-80584904; chr7:80488039-80564109; chr7:80506684-80593184; chr7:80528339-80528845 B_loss_AFmax : 0.01 po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : chr7:80453738-80584904 dbVar; chr7:80506684-80593184 dbVar; chr7:80528336-80528480 HPRC:pbsv.DEL.7130; chr7:80528339-80528480 gnomAD-SV_v3_DEL_chr7_549fab00; 7:80528340-80528480 IMH po_B_loss_someG_coord : chr7:80423736-80562669 dbVar; chr7:80488039-80564109 dbVar; 7:80528336-80528480 CMRI:11_pbsv.DEL.2154_duplicate2; 7:80528337-80528480 esv2657293; chr7:80528339-80528845 dbVar |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 7:80527790-80529351 Repeat_type_left : L1M3e Gap_left : . GC_content_left : 0.590 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 7:80527790-80529351 Repeat_type_right : L1M3e Gap_right : . GC_content_right : 0.605 |
CHM13,HG01243,HG02055,HG02109,HG02145,HG02257[...]Samples_ID : CHM13,HG01243,HG02055,HG02109,HG02145,HG02257,HG02486,HG02559,HG02622,HG02630,HG02717,HG02723,HG02818,HG02886,HG03098,HG03453,HG03486,HG03540,NA18906,NA20129,NA21309 |
>32851057>32851059ID : >32851057>32851059 |
CTCACATAGCTCCAGGTTTCAGGCCCACTTCAGGGCCAGGTTGAC[...]REF : CTCACATAGCTCCAGGTTTCAGGCCCACTTCAGGGCCAGGTTGACTTGACACCCCCGGTTGGTCTCAGTCACCAGGCCAGCACTCATAGGCTCCAGGCCTGCCCAGTGCCAGGCCAGCTCCTGTAGCCCCACCCTCCAGGCTAGC |
CALT : C |
60QUAL : 60 |
.FILTER : . |
AC=24; AF=0.269663; AN=89; AT=>32851057>[...]INFO : AC=24; AF=0.269663; AN=89; AT=>32851057>32851058>32851059,>32851057>32851059; LV=0; NS=45; e=80528483; s=144; rC=LINE/L1 |
GTFORMAT : GT |
0CHM13 : 0 |
0|0HG00438 : 0|0 |
0|0HG00621 : 0|0 |
0|0HG00673 : 0|0 |
0|0HG00733 : 0|0 |
0|0HG00735 : 0|0 |
0|0HG00741 : 0|0 |
0|0HG01071 : 0|0 |
0|0HG01106 : 0|0 |
0|0HG01109 : 0|0 |
0|0HG01123 : 0|0 |
0|0HG01175 : 0|0 |
1|1HG01243 : 1|1 |
0|0HG01258 : 0|0 |
0|0HG01358 : 0|0 |
0|0HG01361 : 0|0 |
0|0HG01891 : 0|0 |
0|0HG01928 : 0|0 |
0|0HG01952 : 0|0 |
0|0HG01978 : 0|0 |
0|1HG02055 : 0|1 |
0|0HG02080 : 0|0 |
1|0HG02109 : 1|0 |
1|0HG02145 : 1|0 |
0|0HG02148 : 0|0 |
0|1HG02257 : 0|1 |
1|1HG02486 : 1|1 |
1|0HG02559 : 1|0 |
0|0HG02572 : 0|0 |
0|1HG02622 : 0|1 |
1|0HG02630 : 1|0 |
1|1HG02717 : 1|1 |
0|1HG02723 : 0|1 |
0|1HG02818 : 0|1 |
1|0HG02886 : 1|0 |
1|0HG03098 : 1|0 |
1|0HG03453 : 1|0 |
1|1HG03486 : 1|1 |
0|0HG03492 : 0|0 |
0|0HG03516 : 0|0 |
1|0HG03540 : 1|0 |
0|0HG03579 : 0|0 |
0|1NA18906 : 0|1 |
1|0NA20129 : 1|0 |
0|1NA21309 : 0|1 |
|
full=1ACMG_class : full=1 |
DELSV_type : DEL SV_length : 144 |
splitAnnotation_mode : split |
LOC124901685Gene_name : LOC124901685; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
intron1-intron1Location : intron1-intron1 CytoBand : q21.11 Location2 : UTR Tx : XR_007060402 Tx_version : 1 Tx_start : 80524846 Tx_end : 80546667 Exon_count : 3 Overlapped_tx_length : 144 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 3423 Nearest_SS_type : 5' Intersect_start : 80528338 Intersect_end : 80528482 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_loss_source : dbVar B_loss_coord : chr7:80423736-80562669; chr7:80453738-80584904; chr7:80488039-80564109; chr7:80506684-80593184; chr7:80528339-80528845 B_loss_AFmax : 0.01 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
CHM13,HG01243,HG02055,HG02109,HG02145,HG02257[...]Samples_ID : CHM13,HG01243,HG02055,HG02109,HG02145,HG02257,HG02486,HG02559,HG02622,HG02630,HG02717,HG02723,HG02818,HG02886,HG03098,HG03453,HG03486,HG03540,NA18906,NA20129,NA21309 |
>32851057>32851059ID : >32851057>32851059 |
CTCACATAGCTCCAGGTTTCAGGCCCACTTCAGGGCCAGGTTGAC[...]REF : CTCACATAGCTCCAGGTTTCAGGCCCACTTCAGGGCCAGGTTGACTTGACACCCCCGGTTGGTCTCAGTCACCAGGCCAGCACTCATAGGCTCCAGGCCTGCCCAGTGCCAGGCCAGCTCCTGTAGCCCCACCCTCCAGGCTAGC |
CALT : C |
60QUAL : 60 |
.FILTER : . |
AC=24; AF=0.269663; AN=89; AT=>32851057>[...]INFO : AC=24; AF=0.269663; AN=89; AT=>32851057>32851058>32851059,>32851057>32851059; LV=0; NS=45; e=80528483; s=144; rC=LINE/L1 |
GTFORMAT : GT |
0CHM13 : 0 |
0|0HG00438 : 0|0 |
0|0HG00621 : 0|0 |
0|0HG00673 : 0|0 |
0|0HG00733 : 0|0 |
0|0HG00735 : 0|0 |
0|0HG00741 : 0|0 |
0|0HG01071 : 0|0 |
0|0HG01106 : 0|0 |
0|0HG01109 : 0|0 |
0|0HG01123 : 0|0 |
0|0HG01175 : 0|0 |
1|1HG01243 : 1|1 |
0|0HG01258 : 0|0 |
0|0HG01358 : 0|0 |
0|0HG01361 : 0|0 |
0|0HG01891 : 0|0 |
0|0HG01928 : 0|0 |
0|0HG01952 : 0|0 |
0|0HG01978 : 0|0 |
0|1HG02055 : 0|1 |
0|0HG02080 : 0|0 |
1|0HG02109 : 1|0 |
1|0HG02145 : 1|0 |
0|0HG02148 : 0|0 |
0|1HG02257 : 0|1 |
1|1HG02486 : 1|1 |
1|0HG02559 : 1|0 |
0|0HG02572 : 0|0 |
0|1HG02622 : 0|1 |
1|0HG02630 : 1|0 |
1|1HG02717 : 1|1 |
0|1HG02723 : 0|1 |
0|1HG02818 : 0|1 |
1|0HG02886 : 1|0 |
1|0HG03098 : 1|0 |
1|0HG03453 : 1|0 |
1|1HG03486 : 1|1 |
0|0HG03492 : 0|0 |
0|0HG03516 : 0|0 |
1|0HG03540 : 1|0 |
0|0HG03579 : 0|0 |
0|1NA18906 : 0|1 |
1|0NA20129 : 1|0 |
0|1NA21309 : 0|1 |
|
1ACMG_class : 1 AnnotSV_ranking_score : -1.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2F/4O (cf B_loss_source, -1.00): Completely contained within an established benign CNV region. 2B (cf po_P_loss_source, HI and OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 3A (1 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 119 Gene_count : 1 |
fullAnnotation_mode : full |
CXCL13Gene_name : CXCL13; LOEUF_bin : 2 GnomAD_pLI : 8.2566e-01 ExAC_pLI : 4.6140e-01 HI : . TS : . DDD_HI_percent : 97.1 ExAC_cnvZ : 0.405518950522118 ExAC_delZ : 0.273267083955463 ExAC_dupZ : 0.338336213634979 ExAC_synZ : 0.158916641649967 ExAC_misZ : -0.210919252825269 Closest_left : LOC105377295 Closest_right : LOC105377296 |
.Location : . CytoBand : q21.1 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15125766; dbVar:nssv18830797; dbVar:nssv16207960; dbVar:nssv16254734; dbVar:nssv16207962; dbVar:nssv17969955; dbVar:nssv15146323 po_P_loss_coord : 4:58301080-100989502; 4:67833056-82716065; 4:68084646-78817444; 4:70546693-86999632; 4:71815163-85505079; 4:72189597-79162000; 4:75453112-84094295 po_P_loss_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00 |
.P_snvindel_nb : . P_snvindel_phen : . |
CMRI:12_pbsv.DEL.1412_duplicate2; gnomAD-SV_v[...]B_loss_source : CMRI:12_pbsv.DEL.1412_duplicate2; gnomAD-SV_v3_DEL_chr4_aa7116c9 B_loss_coord : chr4:73564711-189048534; 4:77562591-77562710 B_loss_AFmax : 0.2162 po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : 4:77562591-77562710 CMRI:12_pbsv.DEL.1412_duplicate2 po_B_loss_someG_coord : chr4:73564711-189048534 gnomAD-SV_v3_DEL_chr4_aa7116c9 |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 4:77561705-77563267 Repeat_type_left : LTR12C Gap_left : . GC_content_left : 0.415 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 4:77561705-77563267 Repeat_type_right : LTR12C Gap_right : . GC_content_right : 0.430 |
CHM13,HG02055,HG02109,HG02486,HG02559,HG02723[...]Samples_ID : CHM13,HG02055,HG02109,HG02486,HG02559,HG02723,HG02886,HG03540 |
>19978260>19978262ID : >19978260>19978262 |
TCTGTGTCTAGCTCAAGGTTTGTAAACACACCAATCAGCACTCTG[...]REF : TCTGTGTCTAGCTCAAGGTTTGTAAACACACCAATCAGCACTCTGTATCTAGCTAATCTGGTGGGGACTTGGAGAACCTTTATGTCTAGCTAAAGGATTGTAAACATACCAATCAGCACC |
TALT : T |
60QUAL : 60 |
.FILTER : . |
AC=7; AF=0.0786517; AN=89; AT=>19978260>[...]INFO : AC=7; AF=0.0786517; AN=89; AT=>19978260>19978261>19978262,>19978260>19978262; LV=0; NS=45; e=77562710; s=119; rC=LTR/ERV |
GTFORMAT : GT |
0CHM13 : 0 |
0|0HG00438 : 0|0 |
0|0HG00621 : 0|0 |
0|0HG00673 : 0|0 |
0|0HG00733 : 0|0 |
0|0HG00735 : 0|0 |
0|0HG00741 : 0|0 |
0|0HG01071 : 0|0 |
0|0HG01106 : 0|0 |
0|0HG01109 : 0|0 |
0|0HG01123 : 0|0 |
0|0HG01175 : 0|0 |
0|0HG01243 : 0|0 |
0|0HG01258 : 0|0 |
0|0HG01358 : 0|0 |
0|0HG01361 : 0|0 |
0|0HG01891 : 0|0 |
0|0HG01928 : 0|0 |
0|0HG01952 : 0|0 |
0|0HG01978 : 0|0 |
1|0HG02055 : 1|0 |
0|0HG02080 : 0|0 |
1|0HG02109 : 1|0 |
0|0HG02145 : 0|0 |
0|0HG02148 : 0|0 |
0|0HG02257 : 0|0 |
1|0HG02486 : 1|0 |
1|0HG02559 : 1|0 |
0|0HG02572 : 0|0 |
0|0HG02622 : 0|0 |
0|0HG02630 : 0|0 |
0|0HG02717 : 0|0 |
1|0HG02723 : 1|0 |
0|0HG02818 : 0|0 |
0|1HG02886 : 0|1 |
0|0HG03098 : 0|0 |
0|0HG03453 : 0|0 |
0|0HG03486 : 0|0 |
0|0HG03492 : 0|0 |
0|0HG03516 : 0|0 |
1|0HG03540 : 1|0 |
0|0HG03579 : 0|0 |
0|0NA18906 : 0|0 |
0|0NA20129 : 0|0 |
0|0NA21309 : 0|0 |
|
full=1ACMG_class : full=1 |
DELSV_type : DEL SV_length : 119 |
splitAnnotation_mode : split |
CXCL13Gene_name : CXCL13; LOEUF_bin : 2 GnomAD_pLI : 8.2566e-01 ExAC_pLI : 4.6140e-01 HI : . TS : . DDD_HI_percent : 97.1 ACMG : . ExAC_cnvZ : 0.405518950522118 ExAC_delZ : 0.273267083955463 ExAC_dupZ : 0.338336213634979 ExAC_synZ : 0.158916641649967 ExAC_misZ : -0.210919252825269 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 10563 |
intron1-intron1Location : intron1-intron1 CytoBand : q21.1 Location2 : 5'UTR Tx : NM_006419 Tx_version : 3 Tx_start : 77511752 Tx_end : 77611834 Exon_count : 5 Overlapped_tx_length : 119 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 43114 Nearest_SS_type : 3' Intersect_start : 77562590 Intersect_end : 77562709 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
CMRI:12_pbsv.DEL.1412_duplicate2; gnomAD-SV_v[...]B_loss_source : CMRI:12_pbsv.DEL.1412_duplicate2; gnomAD-SV_v3_DEL_chr4_aa7116c9 B_loss_coord : chr4:73564711-189048534; 4:77562591-77562710 B_loss_AFmax : 0.2162 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
CHM13,HG02055,HG02109,HG02486,HG02559,HG02723[...]Samples_ID : CHM13,HG02055,HG02109,HG02486,HG02559,HG02723,HG02886,HG03540 |
>19978260>19978262ID : >19978260>19978262 |
TCTGTGTCTAGCTCAAGGTTTGTAAACACACCAATCAGCACTCTG[...]REF : TCTGTGTCTAGCTCAAGGTTTGTAAACACACCAATCAGCACTCTGTATCTAGCTAATCTGGTGGGGACTTGGAGAACCTTTATGTCTAGCTAAAGGATTGTAAACATACCAATCAGCACC |
TALT : T |
60QUAL : 60 |
.FILTER : . |
AC=7; AF=0.0786517; AN=89; AT=>19978260>[...]INFO : AC=7; AF=0.0786517; AN=89; AT=>19978260>19978261>19978262,>19978260>19978262; LV=0; NS=45; e=77562710; s=119; rC=LTR/ERV |
GTFORMAT : GT |
0CHM13 : 0 |
0|0HG00438 : 0|0 |
0|0HG00621 : 0|0 |
0|0HG00673 : 0|0 |
0|0HG00733 : 0|0 |
0|0HG00735 : 0|0 |
0|0HG00741 : 0|0 |
0|0HG01071 : 0|0 |
0|0HG01106 : 0|0 |
0|0HG01109 : 0|0 |
0|0HG01123 : 0|0 |
0|0HG01175 : 0|0 |
0|0HG01243 : 0|0 |
0|0HG01258 : 0|0 |
0|0HG01358 : 0|0 |
0|0HG01361 : 0|0 |
0|0HG01891 : 0|0 |
0|0HG01928 : 0|0 |
0|0HG01952 : 0|0 |
0|0HG01978 : 0|0 |
1|0HG02055 : 1|0 |
0|0HG02080 : 0|0 |
1|0HG02109 : 1|0 |
0|0HG02145 : 0|0 |
0|0HG02148 : 0|0 |
0|0HG02257 : 0|0 |
1|0HG02486 : 1|0 |
1|0HG02559 : 1|0 |
0|0HG02572 : 0|0 |
0|0HG02622 : 0|0 |
0|0HG02630 : 0|0 |
0|0HG02717 : 0|0 |
1|0HG02723 : 1|0 |
0|0HG02818 : 0|0 |
0|1HG02886 : 0|1 |
0|0HG03098 : 0|0 |
0|0HG03453 : 0|0 |
0|0HG03486 : 0|0 |
0|0HG03492 : 0|0 |
0|0HG03516 : 0|0 |
1|0HG03540 : 1|0 |
0|0HG03579 : 0|0 |
0|0NA18906 : 0|0 |
0|0NA20129 : 0|0 |
0|0NA21309 : 0|0 |
|
1ACMG_class : 1 AnnotSV_ranking_score : -1.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2F/4O (cf B_loss_source, -1.00): Completely contained within an established benign CNV region. 2B (cf po_P_loss_source, HI and OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 3A (1 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 122 Gene_count : 1 |
fullAnnotation_mode : full |
LOC107986108Gene_name : LOC107986108; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . Closest_left : LOC105374021 Closest_right : LOC105374023 |
.Location : . CytoBand : q13.11 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15147282; dbVar:nssv15146259; dbVar:nssv18842017; dbVar:nssv15147452; dbVar:nssv15128639; dbVar:nssv16207911; dbVar:nssv15145667 po_P_loss_coord : 3:93819624-116887056; 3:93886672-123216683; 3:93979548-124774010; 3:97795370-115663349; 3:101431894-116529740; 3:102093402-112455638; 3:103692221-109605902 po_P_loss_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00 |
.P_snvindel_nb : . P_snvindel_phen : . |
CMRI:1_pbsv.DEL.1128_duplicate3; HPRC:pbsv.DE[...]B_loss_source : CMRI:1_pbsv.DEL.1128_duplicate3; HPRC:pbsv.DEL.6290; dbVar; esv2674777; gnomAD-SV_v3_DEL_chr3_9b8d4286; gnomAD-SV_v3_DEL_chr3_c483a30d B_loss_coord : chr3:11110259-145805573; chr3:104382742-105065366; chr3:104541962-104731289; chr3:104696038-104700864; chr3:104697464-104697601; chr3:104697464-104697601; 3:104697465-104697601; 3:104697472-104697594; chr3:104697472-104697594 B_loss_AFmax : 0.8347 po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : chr3:104382742-105065366 dbVar; chr3:104696038-104700864 dbVar; chr3:104697464-104697601 gnomAD-SV_v3_DEL_chr3_c483a30d; 3:104697472-104697594 CMRI:1_pbsv.DEL.1128_duplicate3; po_B_loss_someG_coord : chr3:11110259-145805573 gnomAD-SV_v3_DEL_chr3_9b8d4286; chr3:104541962-104731289 dbVar; chr3:104697464-104697601 dbVar; 3:104697465-104697601 esv2674777; chr3:104697472-104697594 HPRC:pbsv.DEL.6290 |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 3:104697464-104697600 Repeat_type_left : L1P2 Gap_left : . GC_content_left : 0.490 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 3:104697464-104697600 Repeat_type_right : L1P2 Gap_right : . GC_content_right : 0.455 |
CHM13,HG00438,HG00621,HG00673,HG00733,HG00741[...]Samples_ID : CHM13,HG00438,HG00621,HG00673,HG00733,HG00741,HG01071,HG01106,HG01123,HG01175,HG01243,HG01258,HG01358,HG01891,HG01928,HG01952,HG02055,HG02080,HG02109,HG02145,HG02148,HG02257,HG02486,HG02559,HG02572,HG02622,HG02630,HG02717,HG02723,HG02818,HG02886,HG03098,HG03453,HG03486,HG03492,HG03516,HG03540,HG03579,NA18906,NA20129,NA21309 |
>13374078>13374075ID : >13374078>13374075 |
CAGGCAAAAAGCGTTTGCTGGAGTGGACCTCCAGCAAAACTCCAA[...]REF : CAGGCAAAAAGCGTTTGCTGGAGTGGACCTCCAGCAAAACTCCAACAGACTCGCAGCTGAGGGACCTGACTCTCACAAGGAAAACTAACAAACAGAAAGGAATAGTATCAACATTAACAAAAAGGACATA |
CCCCAAGCALT : CCCCAAGC |
60QUAL : 60 |
.FILTER : . |
AC=66; AF=0.741573; AN=89; AT=>13374078>[...]INFO : AC=66; AF=0.741573; AN=89; AT=>13374078>13374076>13374075,>13374078>13374077>13374075; LV=0; NS=45; e=104697601; s=129; rC=LINE/L1 |
GTFORMAT : GT |
0CHM13 : 0 |
1|1HG00438 : 1|1 |
1|1HG00621 : 1|1 |
1|1HG00673 : 1|1 |
0|1HG00733 : 0|1 |
0|0HG00735 : 0|0 |
1|0HG00741 : 1|0 |
0|1HG01071 : 0|1 |
1|1HG01106 : 1|1 |
0|0HG01109 : 0|0 |
1|0HG01123 : 1|0 |
1|0HG01175 : 1|0 |
1|1HG01243 : 1|1 |
1|0HG01258 : 1|0 |
0|1HG01358 : 0|1 |
0|0HG01361 : 0|0 |
1|1HG01891 : 1|1 |
1|1HG01928 : 1|1 |
1|1HG01952 : 1|1 |
0|0HG01978 : 0|0 |
1|1HG02055 : 1|1 |
0|1HG02080 : 0|1 |
1|1HG02109 : 1|1 |
0|1HG02145 : 0|1 |
1|1HG02148 : 1|1 |
1|1HG02257 : 1|1 |
1|1HG02486 : 1|1 |
1|1HG02559 : 1|1 |
1|1HG02572 : 1|1 |
1|1HG02622 : 1|1 |
1|1HG02630 : 1|1 |
1|1HG02717 : 1|1 |
1|1HG02723 : 1|1 |
1|1HG02818 : 1|1 |
1|1HG02886 : 1|1 |
0|1HG03098 : 0|1 |
1|1HG03453 : 1|1 |
1|1HG03486 : 1|1 |
0|1HG03492 : 0|1 |
1|1HG03516 : 1|1 |
1|1HG03540 : 1|1 |
0|1HG03579 : 0|1 |
0|1NA18906 : 0|1 |
1|1NA20129 : 1|1 |
1|0NA21309 : 1|0 |
|
full=1ACMG_class : full=1 |
DELSV_type : DEL SV_length : 122 |
splitAnnotation_mode : split |
LOC107986108Gene_name : LOC107986108; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
intron3-intron3Location : intron3-intron3 CytoBand : q13.11 Location2 : UTR Tx : XR_001740831 Tx_version : 1 Tx_start : 104630480 Tx_end : 104858020 Exon_count : 4 Overlapped_tx_length : 122 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 66892 Nearest_SS_type : 3' Intersect_start : 104697471 Intersect_end : 104697593 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
CMRI:1_pbsv.DEL.1128_duplicate3; HPRC:pbsv.DE[...]B_loss_source : CMRI:1_pbsv.DEL.1128_duplicate3; HPRC:pbsv.DEL.6290; dbVar; esv2674777; gnomAD-SV_v3_DEL_chr3_9b8d4286; gnomAD-SV_v3_DEL_chr3_c483a30d B_loss_coord : chr3:11110259-145805573; chr3:104382742-105065366; chr3:104541962-104731289; chr3:104696038-104700864; chr3:104697464-104697601; chr3:104697464-104697601; 3:104697465-104697601; 3:104697472-104697594; chr3:104697472-104697594 B_loss_AFmax : 0.8347 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
CHM13,HG00438,HG00621,HG00673,HG00733,HG00741[...]Samples_ID : CHM13,HG00438,HG00621,HG00673,HG00733,HG00741,HG01071,HG01106,HG01123,HG01175,HG01243,HG01258,HG01358,HG01891,HG01928,HG01952,HG02055,HG02080,HG02109,HG02145,HG02148,HG02257,HG02486,HG02559,HG02572,HG02622,HG02630,HG02717,HG02723,HG02818,HG02886,HG03098,HG03453,HG03486,HG03492,HG03516,HG03540,HG03579,NA18906,NA20129,NA21309 |
>13374078>13374075ID : >13374078>13374075 |
CAGGCAAAAAGCGTTTGCTGGAGTGGACCTCCAGCAAAACTCCAA[...]REF : CAGGCAAAAAGCGTTTGCTGGAGTGGACCTCCAGCAAAACTCCAACAGACTCGCAGCTGAGGGACCTGACTCTCACAAGGAAAACTAACAAACAGAAAGGAATAGTATCAACATTAACAAAAAGGACATA |
CCCCAAGCALT : CCCCAAGC |
60QUAL : 60 |
.FILTER : . |
AC=66; AF=0.741573; AN=89; AT=>13374078>[...]INFO : AC=66; AF=0.741573; AN=89; AT=>13374078>13374076>13374075,>13374078>13374077>13374075; LV=0; NS=45; e=104697601; s=129; rC=LINE/L1 |
GTFORMAT : GT |
0CHM13 : 0 |
1|1HG00438 : 1|1 |
1|1HG00621 : 1|1 |
1|1HG00673 : 1|1 |
0|1HG00733 : 0|1 |
0|0HG00735 : 0|0 |
1|0HG00741 : 1|0 |
0|1HG01071 : 0|1 |
1|1HG01106 : 1|1 |
0|0HG01109 : 0|0 |
1|0HG01123 : 1|0 |
1|0HG01175 : 1|0 |
1|1HG01243 : 1|1 |
1|0HG01258 : 1|0 |
0|1HG01358 : 0|1 |
0|0HG01361 : 0|0 |
1|1HG01891 : 1|1 |
1|1HG01928 : 1|1 |
1|1HG01952 : 1|1 |
0|0HG01978 : 0|0 |
1|1HG02055 : 1|1 |
0|1HG02080 : 0|1 |
1|1HG02109 : 1|1 |
0|1HG02145 : 0|1 |
1|1HG02148 : 1|1 |
1|1HG02257 : 1|1 |
1|1HG02486 : 1|1 |
1|1HG02559 : 1|1 |
1|1HG02572 : 1|1 |
1|1HG02622 : 1|1 |
1|1HG02630 : 1|1 |
1|1HG02717 : 1|1 |
1|1HG02723 : 1|1 |
1|1HG02818 : 1|1 |
1|1HG02886 : 1|1 |
0|1HG03098 : 0|1 |
1|1HG03453 : 1|1 |
1|1HG03486 : 1|1 |
0|1HG03492 : 0|1 |
1|1HG03516 : 1|1 |
1|1HG03540 : 1|1 |
0|1HG03579 : 0|1 |
0|1NA18906 : 0|1 |
1|1NA20129 : 1|1 |
1|0NA21309 : 1|0 |
|
1ACMG_class : 1 AnnotSV_ranking_score : -1.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2F/4O (cf B_loss_source, -1.00): Completely contained within an established benign CNV region. 2B (cf po_P_loss_source, HI and OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 3A (1 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 267 Gene_count : 1 |
fullAnnotation_mode : full |
LOC105376755Gene_name : LOC105376755; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . Closest_left : LINC01790 Closest_right : LOC105373817 |
.Location : . CytoBand : q32.3 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15124851; dbVar:nssv15146209; dbVar:nssv15146426; dbVar:nssv15139744; dbVar:nssv15133598; dbVar:nssv17976941; dbVar:nssv15133754; dbVar:nssv18330771; dbVar:nssv15162684; dbVar:nssv18330068; dbVar:nssv16252261; dbVar:nssv15152822; dbVar:nssv15152716; dbVar:nssv15145974; dbVar:nssv15141794; dbVar:nssv15132676; dbVar:nssv15776705 po_P_loss_coord : 2:50659295-242160331; 2:174898849-203941548; 2:176304446-202039790; 2:176450426-195510796; 2:177874071-198525492; 2:184832933-212137349; 2:186027473-201059372; 2:186288028-199095802; 2:188625764-199750773; 2:189045179-208603658; 2:189480547-199347566; 2:190885477-201432653; 2:192673202-201163013; 2:192938827-215705052; 2:193716592-200887699; 2:194515160-198545937; 2:194922000-199666404 po_P_loss_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.01; 0.01 |
.P_snvindel_nb : . P_snvindel_phen : . |
CMRI:0_pbsv.DEL.2336_duplicate1; HPRC:pbsv.DE[...]B_loss_source : CMRI:0_pbsv.DEL.2336_duplicate1; HPRC:pbsv.DEL.13099; dbVar; gnomAD-SV_v3_DEL_chr2_d8522047 B_loss_coord : chr2:148424217-233186659; chr2:195187090-195187359; 2:195187090-195187360; chr2:195187090-195187360 B_loss_AFmax : 0.9741 po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : chr2:195187090-195187359 HPRC:pbsv.DEL.13099; chr2:195187090-195187360 dbVar; chr2:195187091-195187360 dbVar; po_B_loss_someG_coord : chr2:148424217-233186659 gnomAD-SV_v3_DEL_chr2_d8522047; 2:195187090-195187360 CMRI:0_pbsv.DEL.2336_duplicate1; 2:195187091-195187360 1000g; chr2:195187107-195187360 gnomAD-SV_v3_DEL_chr2_ff38de9f |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 2:195186907-195187006; 2:195187108-195187353 Repeat_type_left : MIRb; L1HS Gap_left : . GC_content_left : 0.425 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 2:195187108-195187353 Repeat_type_right : L1HS Gap_right : . GC_content_right : 0.355 |
CHM13,HG00438,HG00621,HG00673,HG00733,HG00735[...]Samples_ID : CHM13,HG00438,HG00621,HG00673,HG00733,HG00735,HG00741,HG01071,HG01106,HG01109,HG01123,HG01175,HG01243,HG01258,HG01358,HG01361,HG01891,HG01928,HG01952,HG01978,HG02055,HG02080,HG02109,HG02145,HG02148,HG02486,HG02559,HG02572,HG02622,HG02630,HG02717,HG02723,HG02818,HG02886,HG03098,HG03453,HG03486,HG03492,HG03516,HG03540,HG03579,NA18906,NA20129,NA21309 |
>11262613>11262615ID : >11262613>11262615 |
TAAAAAATAGGTTGGCTGCGCATATTCTCACTCATAGGTGGGAAT[...]REF : TAAAAAATAGGTTGGCTGCGCATATTCTCACTCATAGGTGGGAATTGAACAATGAGATCACATGGACACAGCAAGGGGAATATCACACTCGGGGGACTGTGGTGGGGTCGGGGGAGGGGGGAGGGATAGCATTGGGAGATATACCTAATGCTAGATGACACGTTAGTGGGTGCAGCGCACCAGCATGGCACATGTATACTTATGTAACTAGCCTGCACAATGTGCACATGTACCCTAAAACTTAGAGTATAATAAAAAAAAAAACATT |
TALT : T |
60QUAL : 60 |
.FILTER : . |
AC=80; AF=0.898876; AN=89; AT=>11262613>[...]INFO : AC=80; AF=0.898876; AN=89; AT=>11262613>11262614>11262615,>11262613>11262615; LV=0; NS=45; e=195187357; s=267; rC=LINE/L1 |
GTFORMAT : GT |
1CHM13 : 1 |
1|1HG00438 : 1|1 |
1|1HG00621 : 1|1 |
1|1HG00673 : 1|1 |
1|1HG00733 : 1|1 |
1|1HG00735 : 1|1 |
1|1HG00741 : 1|1 |
1|1HG01071 : 1|1 |
1|1HG01106 : 1|1 |
1|1HG01109 : 1|1 |
1|1HG01123 : 1|1 |
1|1HG01175 : 1|1 |
1|1HG01243 : 1|1 |
1|1HG01258 : 1|1 |
1|1HG01358 : 1|1 |
1|1HG01361 : 1|1 |
0|1HG01891 : 0|1 |
1|1HG01928 : 1|1 |
1|1HG01952 : 1|1 |
1|1HG01978 : 1|1 |
1|1HG02055 : 1|1 |
1|1HG02080 : 1|1 |
1|1HG02109 : 1|1 |
1|0HG02145 : 1|0 |
1|1HG02148 : 1|1 |
0|0HG02257 : 0|0 |
0|1HG02486 : 0|1 |
0|1HG02559 : 0|1 |
1|1HG02572 : 1|1 |
1|0HG02622 : 1|0 |
1|1HG02630 : 1|1 |
1|1HG02717 : 1|1 |
1|1HG02723 : 1|1 |
1|1HG02818 : 1|1 |
1|1HG02886 : 1|1 |
1|1HG03098 : 1|1 |
1|1HG03453 : 1|1 |
1|1HG03486 : 1|1 |
1|1HG03492 : 1|1 |
1|1HG03516 : 1|1 |
1|0HG03540 : 1|0 |
0|1HG03579 : 0|1 |
1|1NA18906 : 1|1 |
1|1NA20129 : 1|1 |
1|1NA21309 : 1|1 |
|
full=1ACMG_class : full=1 |
DELSV_type : DEL SV_length : 267 |
splitAnnotation_mode : split |
LOC105376755Gene_name : LOC105376755; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
intron2-intron2Location : intron2-intron2 CytoBand : q32.3 Location2 : UTR Tx : XR_007088699 Tx_version : 1 Tx_start : 194726171 Tx_end : 195399504 Exon_count : 4 Overlapped_tx_length : 267 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 17621 Nearest_SS_type : 5' Intersect_start : 195187089 Intersect_end : 195187356 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
CMRI:0_pbsv.DEL.2336_duplicate1; HPRC:pbsv.DE[...]B_loss_source : CMRI:0_pbsv.DEL.2336_duplicate1; HPRC:pbsv.DEL.13099; dbVar; gnomAD-SV_v3_DEL_chr2_d8522047 B_loss_coord : chr2:148424217-233186659; chr2:195187090-195187359; 2:195187090-195187360; chr2:195187090-195187360 B_loss_AFmax : 0.9741 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
CHM13,HG00438,HG00621,HG00673,HG00733,HG00735[...]Samples_ID : CHM13,HG00438,HG00621,HG00673,HG00733,HG00735,HG00741,HG01071,HG01106,HG01109,HG01123,HG01175,HG01243,HG01258,HG01358,HG01361,HG01891,HG01928,HG01952,HG01978,HG02055,HG02080,HG02109,HG02145,HG02148,HG02486,HG02559,HG02572,HG02622,HG02630,HG02717,HG02723,HG02818,HG02886,HG03098,HG03453,HG03486,HG03492,HG03516,HG03540,HG03579,NA18906,NA20129,NA21309 |
>11262613>11262615ID : >11262613>11262615 |
TAAAAAATAGGTTGGCTGCGCATATTCTCACTCATAGGTGGGAAT[...]REF : TAAAAAATAGGTTGGCTGCGCATATTCTCACTCATAGGTGGGAATTGAACAATGAGATCACATGGACACAGCAAGGGGAATATCACACTCGGGGGACTGTGGTGGGGTCGGGGGAGGGGGGAGGGATAGCATTGGGAGATATACCTAATGCTAGATGACACGTTAGTGGGTGCAGCGCACCAGCATGGCACATGTATACTTATGTAACTAGCCTGCACAATGTGCACATGTACCCTAAAACTTAGAGTATAATAAAAAAAAAAACATT |
TALT : T |
60QUAL : 60 |
.FILTER : . |
AC=80; AF=0.898876; AN=89; AT=>11262613>[...]INFO : AC=80; AF=0.898876; AN=89; AT=>11262613>11262614>11262615,>11262613>11262615; LV=0; NS=45; e=195187357; s=267; rC=LINE/L1 |
GTFORMAT : GT |
1CHM13 : 1 |
1|1HG00438 : 1|1 |
1|1HG00621 : 1|1 |
1|1HG00673 : 1|1 |
1|1HG00733 : 1|1 |
1|1HG00735 : 1|1 |
1|1HG00741 : 1|1 |
1|1HG01071 : 1|1 |
1|1HG01106 : 1|1 |
1|1HG01109 : 1|1 |
1|1HG01123 : 1|1 |
1|1HG01175 : 1|1 |
1|1HG01243 : 1|1 |
1|1HG01258 : 1|1 |
1|1HG01358 : 1|1 |
1|1HG01361 : 1|1 |
0|1HG01891 : 0|1 |
1|1HG01928 : 1|1 |
1|1HG01952 : 1|1 |
1|1HG01978 : 1|1 |
1|1HG02055 : 1|1 |
1|1HG02080 : 1|1 |
1|1HG02109 : 1|1 |
1|0HG02145 : 1|0 |
1|1HG02148 : 1|1 |
0|0HG02257 : 0|0 |
0|1HG02486 : 0|1 |
0|1HG02559 : 0|1 |
1|1HG02572 : 1|1 |
1|0HG02622 : 1|0 |
1|1HG02630 : 1|1 |
1|1HG02717 : 1|1 |
1|1HG02723 : 1|1 |
1|1HG02818 : 1|1 |
1|1HG02886 : 1|1 |
1|1HG03098 : 1|1 |
1|1HG03453 : 1|1 |
1|1HG03486 : 1|1 |
1|1HG03492 : 1|1 |
1|1HG03516 : 1|1 |
1|0HG03540 : 1|0 |
0|1HG03579 : 0|1 |
1|1NA18906 : 1|1 |
1|1NA20129 : 1|1 |
1|1NA21309 : 1|1 |
|
1ACMG_class : 1 AnnotSV_ranking_score : -1.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2F/4O (cf B_loss_source, -1.00): Completely contained within an established benign CNV region. 3A (1 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 100 Gene_count : 1 |
fullAnnotation_mode : full |
.Location : . CytoBand : p35.3 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : . po_P_loss_coord : . po_P_loss_percent : . |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVar; gnomAD-SV_v3_DEL_chr1_b57772e5; gnomAD[...]B_loss_source : dbVar; gnomAD-SV_v3_DEL_chr1_b57772e5; gnomAD-SV_v3_DEL_chr1_cf5f2df8 B_loss_coord : chr1:13203398-167621949; chr1:28001444-28001544; chr1:28001444-28001544 B_loss_AFmax : 0.1676 po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : chr1:28001444-28001544 dbVar; po_B_loss_someG_coord : chr1:13203398-167621949 gnomAD-SV_v3_DEL_chr1_cf5f2df8; chr1:28001444-28001544 gnomAD-SV_v3_DEL_chr1_b57772e5 |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 1:28001468-28001756 Repeat_type_left : AluY Gap_left : . GC_content_left : 0.365 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 1:28001468-28001756 Repeat_type_right : AluY Gap_right : . GC_content_right : 0.515 |
CHM13,HG03098,NA21309Samples_ID : CHM13,HG03098,NA21309 |
>2840564>2840562ID : >2840564>2840562 |
TGTAAATATATAAAATTTTTTTTTGCCAGGCGCAGTGGCTCACGC[...]REF : TGTAAATATATAAAATTTTTTTTTGCCAGGCGCAGTGGCTCACGCCTGTAATCGCAGCACTTTGGGAGGCCAAGGCAGGTGGATCATGAGGTCAGGGGATC |
TALT : T |
60QUAL : 60 |
.FILTER : . |
AC=2; AF=0.0224719; AN=89; AT=>2840564>[...]INFO : AC=2; AF=0.0224719; AN=89; AT=>2840564>2840563>2840562,>2840564>2840562; LV=0; NS=45; e=28001544; s=100; rC=SINE/Alu |
GTFORMAT : GT |
0CHM13 : 0 |
0|0HG00438 : 0|0 |
0|0HG00621 : 0|0 |
0|0HG00673 : 0|0 |
0|0HG00733 : 0|0 |
0|0HG00735 : 0|0 |
0|0HG00741 : 0|0 |
0|0HG01071 : 0|0 |
0|0HG01106 : 0|0 |
0|0HG01109 : 0|0 |
0|0HG01123 : 0|0 |
0|0HG01175 : 0|0 |
0|0HG01243 : 0|0 |
0|0HG01258 : 0|0 |
0|0HG01358 : 0|0 |
0|0HG01361 : 0|0 |
0|0HG01891 : 0|0 |
0|0HG01928 : 0|0 |
0|0HG01952 : 0|0 |
0|0HG01978 : 0|0 |
0|0HG02055 : 0|0 |
0|0HG02080 : 0|0 |
0|0HG02109 : 0|0 |
0|0HG02145 : 0|0 |
0|0HG02148 : 0|0 |
0|0HG02257 : 0|0 |
0|0HG02486 : 0|0 |
0|0HG02559 : 0|0 |
0|0HG02572 : 0|0 |
0|0HG02622 : 0|0 |
0|0HG02630 : 0|0 |
0|0HG02717 : 0|0 |
0|0HG02723 : 0|0 |
0|0HG02818 : 0|0 |
0|0HG02886 : 0|0 |
1|0HG03098 : 1|0 |
0|0HG03453 : 0|0 |
0|0HG03486 : 0|0 |
0|0HG03492 : 0|0 |
0|0HG03516 : 0|0 |
0|0HG03540 : 0|0 |
0|0HG03579 : 0|0 |
0|0NA18906 : 0|0 |
0|0NA20129 : 0|0 |
0|1NA21309 : 0|1 |
||
full=1ACMG_class : full=1 |
DELSV_type : DEL SV_length : 100 |
splitAnnotation_mode : split |
EYA3Gene_name : EYA3; LOEUF_bin : 0 GnomAD_pLI : 9.9702e-01 ExAC_pLI : 9.9504e-01 HI : . TS : . DDD_HI_percent : 14.1 ACMG : . ExAC_cnvZ : 0.89274182075407 ExAC_delZ : 1.30145471743479 ExAC_dupZ : 0.465858900596123 ExAC_synZ : 0.834750145935155 ExAC_misZ : 1.92145644982814 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 2140 |
intron10-intron10Location : intron10-intron10 CytoBand : p35.3 Location2 : CDS Tx : NM_001282561 Tx_version : 2 Tx_start : 27970343 Tx_end : 28088610 Exon_count : 17 Overlapped_tx_length : 100 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 1394 Nearest_SS_type : 3' Intersect_start : 28001443 Intersect_end : 28001543 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVar; gnomAD-SV_v3_DEL_chr1_b57772e5; gnomAD[...]B_loss_source : dbVar; gnomAD-SV_v3_DEL_chr1_b57772e5; gnomAD-SV_v3_DEL_chr1_cf5f2df8 B_loss_coord : chr1:13203398-167621949; chr1:28001444-28001544; chr1:28001444-28001544 B_loss_AFmax : 0.1676 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
CHM13,HG03098,NA21309Samples_ID : CHM13,HG03098,NA21309 |
>2840564>2840562ID : >2840564>2840562 |
TGTAAATATATAAAATTTTTTTTTGCCAGGCGCAGTGGCTCACGC[...]REF : TGTAAATATATAAAATTTTTTTTTGCCAGGCGCAGTGGCTCACGCCTGTAATCGCAGCACTTTGGGAGGCCAAGGCAGGTGGATCATGAGGTCAGGGGATC |
TALT : T |
60QUAL : 60 |
.FILTER : . |
AC=2; AF=0.0224719; AN=89; AT=>2840564>[...]INFO : AC=2; AF=0.0224719; AN=89; AT=>2840564>2840563>2840562,>2840564>2840562; LV=0; NS=45; e=28001544; s=100; rC=SINE/Alu |
GTFORMAT : GT |
0CHM13 : 0 |
0|0HG00438 : 0|0 |
0|0HG00621 : 0|0 |
0|0HG00673 : 0|0 |
0|0HG00733 : 0|0 |
0|0HG00735 : 0|0 |
0|0HG00741 : 0|0 |
0|0HG01071 : 0|0 |
0|0HG01106 : 0|0 |
0|0HG01109 : 0|0 |
0|0HG01123 : 0|0 |
0|0HG01175 : 0|0 |
0|0HG01243 : 0|0 |
0|0HG01258 : 0|0 |
0|0HG01358 : 0|0 |
0|0HG01361 : 0|0 |
0|0HG01891 : 0|0 |
0|0HG01928 : 0|0 |
0|0HG01952 : 0|0 |
0|0HG01978 : 0|0 |
0|0HG02055 : 0|0 |
0|0HG02080 : 0|0 |
0|0HG02109 : 0|0 |
0|0HG02145 : 0|0 |
0|0HG02148 : 0|0 |
0|0HG02257 : 0|0 |
0|0HG02486 : 0|0 |
0|0HG02559 : 0|0 |
0|0HG02572 : 0|0 |
0|0HG02622 : 0|0 |
0|0HG02630 : 0|0 |
0|0HG02717 : 0|0 |
0|0HG02723 : 0|0 |
0|0HG02818 : 0|0 |
0|0HG02886 : 0|0 |
1|0HG03098 : 1|0 |
0|0HG03453 : 0|0 |
0|0HG03486 : 0|0 |
0|0HG03492 : 0|0 |
0|0HG03516 : 0|0 |
0|0HG03540 : 0|0 |
0|0HG03579 : 0|0 |
0|0NA18906 : 0|0 |
0|0NA20129 : 0|0 |
0|1NA21309 : 0|1 |
|
1ACMG_class : 1 AnnotSV_ranking_score : -1.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2F/4O (cf B_loss_source, -1.00): Completely contained within an established benign CNV region. 2B (cf po_P_loss_source, HI and OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 3A (0 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 327 Gene_count : 0 |
fullAnnotation_mode : full |
.Gene_name : . LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . Closest_left : PNMA8C Closest_right : PNMA8A |
.Location : . CytoBand : q13.32 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
AP2S1 (morbid/RE=EA_enhancer); FKRP (morbid/R[...]RE_gene : AP2S1 (morbid/RE=EA_enhancer); FKRP (morbid/RE=EA_enhancer); CCDC8 (morbid/RE=EA_enhancer); CALM3 (morbid/RE=EA_enhancer); |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15147682; dbVar:nssv15147438; dbVar:nssv15132275; dbVar:nssv15142859 po_P_loss_coord : 19:42509214-46738277; 19:45387390-46831000; 19:45595874-46600026; 19:45900991-47985464 po_P_loss_percent : 0.01; 0.02; 0.03; 0.02 |
.P_snvindel_nb : . P_snvindel_phen : . |
CMRI:0_pbsv.DEL.862_duplicate5; HPRC:pbsv.DEL[...]B_loss_source : CMRI:0_pbsv.DEL.862_duplicate5; HPRC:pbsv.DEL.5393; dbVar B_loss_coord : chr19:46452667-46461892; 19:46452844-46453171; chr19:46452844-46453171 B_loss_AFmax : 0.9951 po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : 19:46452844-46453171 CMRI:0_pbsv.DEL.862_duplicate5; chr19:46452850-46453171 gnomAD-SV_v3_DEL_chr19_aff3dd82 po_B_loss_someG_coord : chr19:46452667-46461892 dbVar; chr19:46452844-46453171 HPRC:pbsv.DEL.5393 |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 19:46452719-46452850; 19:46452851-46453157 Repeat_type_left : AluSz6; AluYa5 Gap_left : . GC_content_left : 0.580 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 19:46452851-46453157; 19:46453158-46453352 Repeat_type_right : AluYa5; AluSz6 Gap_right : . GC_content_right : 0.455 |
CHM13,HG00438,HG00621,HG00673,HG00733,HG00735[...]Samples_ID : CHM13,HG00438,HG00621,HG00673,HG00733,HG00735,HG00741,HG01071,HG01106,HG01109,HG01123,HG01175,HG01243,HG01258,HG01358,HG01361,HG01891,HG01928,HG01952,HG01978,HG02055,HG02080,HG02109,HG02145,HG02148,HG02257,HG02486,HG02559,HG02572,HG02622,HG02630,HG02717,HG02723,HG02818,HG02886,HG03098,HG03453,HG03486,HG03492,HG03516,HG03540,HG03579,NA18906,NA20129,NA21309 |
>70848050>70848048ID : >70848050>70848048 |
CAAAAAAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGG[...]REF : CAAAAAAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCGGGAGATCGAGGCCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA |
CALT : C |
60QUAL : 60 |
.FILTER : . |
AC=89; AF=1; AN=89; AT=>70848050>708480[...]INFO : AC=89; AF=1; AN=89; AT=>70848050>70848049>70848048,>70848050>70848048; LV=0; NS=45; e=46453171; s=327; rC=SINE/Alu |
GTFORMAT : GT |
1CHM13 : 1 |
1|1HG00438 : 1|1 |
1|1HG00621 : 1|1 |
1|1HG00673 : 1|1 |
1|1HG00733 : 1|1 |
1|1HG00735 : 1|1 |
1|1HG00741 : 1|1 |
1|1HG01071 : 1|1 |
1|1HG01106 : 1|1 |
1|1HG01109 : 1|1 |
1|1HG01123 : 1|1 |
1|1HG01175 : 1|1 |
1|1HG01243 : 1|1 |
1|1HG01258 : 1|1 |
1|1HG01358 : 1|1 |
1|1HG01361 : 1|1 |
1|1HG01891 : 1|1 |
1|1HG01928 : 1|1 |
1|1HG01952 : 1|1 |
1|1HG01978 : 1|1 |
1|1HG02055 : 1|1 |
1|1HG02080 : 1|1 |
1|1HG02109 : 1|1 |
1|1HG02145 : 1|1 |
1|1HG02148 : 1|1 |
1|1HG02257 : 1|1 |
1|1HG02486 : 1|1 |
1|1HG02559 : 1|1 |
1|1HG02572 : 1|1 |
1|1HG02622 : 1|1 |
1|1HG02630 : 1|1 |
1|1HG02717 : 1|1 |
1|1HG02723 : 1|1 |
1|1HG02818 : 1|1 |
1|1HG02886 : 1|1 |
1|1HG03098 : 1|1 |
1|1HG03453 : 1|1 |
1|1HG03486 : 1|1 |
1|1HG03492 : 1|1 |
1|1HG03516 : 1|1 |
1|1HG03540 : 1|1 |
1|1HG03579 : 1|1 |
1|1NA18906 : 1|1 |
1|1NA20129 : 1|1 |
1|1NA21309 : 1|1 |
|
1ACMG_class : 1 AnnotSV_ranking_score : -1.6 AnnotSV_ranking_criteria : 1B (cf Gene_count, RE_gene, -0.60): Does NOT contain protein-coding or any known functionally important elements. 2F/4O (cf B_loss_source, -1.00): Completely contained within an established benign CNV region. 2B (cf po_P_loss_source, HI and OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 3A (0 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 336 Gene_count : 0 |
fullAnnotation_mode : full |
.Gene_name : . LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . Closest_left : LOC124903243 Closest_right : LINC00433 |
.Location : . CytoBand : q31.2 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15161772; dbVar:nssv15161334; dbVar:nssv17969593; dbVar:nssv15161035; dbVar:nssv16208363; dbVar:nssv16208365; dbVar:nssv15161647; dbVar:nssv15172817; dbVar:nssv17957149; dbVar:nssv15161434; dbVar:nssv15161875; dbVar:nssv15161542; dbVar:nssv15136635; dbVar:nssv15120288; dbVar:nssv17969608; dbVar:nssv15149514; dbVar:nssv15140176; dbVar:nssv15134931; dbVar:nssv15158016; dbVar:nssv15148859; dbVar:nssv17969610; dbVar:nssv15136939; dbVar:nssv15120291 po_P_loss_coord : 13:18445863-114327173; 13:40942299-114340331; 13:41883706-91144444; 13:44967524-92738168; 13:50938468-90978857; 13:52687879-114342258; 13:52977166-109198303; 13:56484301-94032361; 13:59000627-88757773; 13:73885259-92829041; 13:76368469-90007867; 13:77061781-92460406; 13:78304803-91283940; 13:78349127-94701844; 13:78795878-114342258; 13:79998364-108067180; 13:81276957-102212324; 13:84005265-92784013; 13:84452425-91808893; 13:86788928-114340331; 13:87420886-114342258; 13:87944480-99866542; 13:88323010-98888644 po_P_loss_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00 |
.P_snvindel_nb : . P_snvindel_phen : . |
CMRI:0_pbsv.DEL.951_duplicate4; HPRC:pbsv.DEL[...]B_loss_source : CMRI:0_pbsv.DEL.951_duplicate4; HPRC:pbsv.DEL.4588; dbVar; gnomAD-SV_v3_DEL_chr13_d0414a6d B_loss_coord : chr13:88350744-88351349; 13:88351009-88351345; chr13:88351009-88351345; chr13:88351009-88351345 B_loss_AFmax : 1.0000 po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : 13:88351009-88351345 CMRI:0_pbsv.DEL.951_duplicate4; chr13:88351009-88351345 dbVar; chr13:88351010-88351345 dbVar; po_B_loss_someG_coord : chr13:88350744-88351349 gnomAD-SV_v3_DEL_chr13_d0414a6d; chr13:88351009-88351345 HPRC:pbsv.DEL.4588; 13:88351010-88351345 1000g; chr13:88351028-88351345 dbVar |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 13:88350990-88351021; 13:88351022-88351346 Repeat_type_left : (CTAATAT)n; AluYa5 Gap_left : . GC_content_left : 0.315 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 13:88351022-88351346; 13:88351347-88351358 Repeat_type_right : AluYa5; (CTAATAT)n Gap_right : . GC_content_right : 0.505 |
CHM13,HG00438,HG00621,HG00673,HG00733,HG00735[...]Samples_ID : CHM13,HG00438,HG00621,HG00673,HG00733,HG00735,HG00741,HG01071,HG01106,HG01109,HG01123,HG01175,HG01243,HG01258,HG01358,HG01361,HG01891,HG01928,HG01952,HG01978,HG02055,HG02080,HG02109,HG02145,HG02148,HG02257,HG02486,HG02559,HG02572,HG02622,HG02630,HG02717,HG02723,HG02818,HG02886,HG03098,HG03453,HG03486,HG03492,HG03516,HG03540,HG03579,NA18906,NA20129,NA21309 |
>55737803>55737805ID : >55737803>55737805 |
TCTAAATCTAGTATTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTT[...]REF : TCTAAATCTAGTATTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGC |
TALT : T |
60QUAL : 60 |
.FILTER : . |
AC=89; AF=1; AN=89; AT=>55737803>557378[...]INFO : AC=89; AF=1; AN=89; AT=>55737803>55737804>55737805,>55737803>55737805; LV=0; NS=45; e=88351345; s=336; rC=SINE/Alu |
GTFORMAT : GT |
1CHM13 : 1 |
1|1HG00438 : 1|1 |
1|1HG00621 : 1|1 |
1|1HG00673 : 1|1 |
1|1HG00733 : 1|1 |
1|1HG00735 : 1|1 |
1|1HG00741 : 1|1 |
1|1HG01071 : 1|1 |
1|1HG01106 : 1|1 |
1|1HG01109 : 1|1 |
1|1HG01123 : 1|1 |
1|1HG01175 : 1|1 |
1|1HG01243 : 1|1 |
1|1HG01258 : 1|1 |
1|1HG01358 : 1|1 |
1|1HG01361 : 1|1 |
1|1HG01891 : 1|1 |
1|1HG01928 : 1|1 |
1|1HG01952 : 1|1 |
1|1HG01978 : 1|1 |
1|1HG02055 : 1|1 |
1|1HG02080 : 1|1 |
1|1HG02109 : 1|1 |
1|1HG02145 : 1|1 |
1|1HG02148 : 1|1 |
1|1HG02257 : 1|1 |
1|1HG02486 : 1|1 |
1|1HG02559 : 1|1 |
1|1HG02572 : 1|1 |
1|1HG02622 : 1|1 |
1|1HG02630 : 1|1 |
1|1HG02717 : 1|1 |
1|1HG02723 : 1|1 |
1|1HG02818 : 1|1 |
1|1HG02886 : 1|1 |
1|1HG03098 : 1|1 |
1|1HG03453 : 1|1 |
1|1HG03486 : 1|1 |
1|1HG03492 : 1|1 |
1|1HG03516 : 1|1 |
1|1HG03540 : 1|1 |
1|1HG03579 : 1|1 |
1|1NA18906 : 1|1 |
1|1NA20129 : 1|1 |
1|1NA21309 : 1|1 |
|
1ACMG_class : 1 AnnotSV_ranking_score : -1.6 AnnotSV_ranking_criteria : 1B (cf Gene_count, RE_gene, -0.60): Does NOT contain protein-coding or any known functionally important elements. 2F/4O (cf B_loss_source, -1.00): Completely contained within an established benign CNV region. 2B (cf po_P_loss_source, HI and OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 3A (0 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 304 Gene_count : 0 |
fullAnnotation_mode : full |
.Gene_name : . LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . Closest_left : RERGL Closest_right : PIK3C2G |
.Location : . CytoBand : p12.3 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv18326335; dbVar:nssv15133943; dbVar:nssv15773534 po_P_loss_coord : 12:10701289-23950876; 12:15840855-22021652; 12:15988496-27580392 po_P_loss_percent : 0.00; 0.00; 0.00 |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_loss_source : dbVar B_loss_coord : chr12:18070860-18165235; chr12:18116498-18204601; chr12:18116661-18192739; chr12:18157737-18697122 B_loss_AFmax : 0.01 po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : chr12:18116498-18204601 dbVar; chr12:18157737-18697122 dbVar po_B_loss_someG_coord : chr12:18070860-18165235 dbVar; chr12:18116661-18192739 dbVar |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 12:18164284-18164685; 12:18164767-18164835; 12:18164849-18164993 Repeat_type_left : THE1B; THE1B; THE1B Gap_left : . GC_content_left : 0.380 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 12:18164849-18164993 Repeat_type_right : THE1B Gap_right : . GC_content_right : 0.375 |
CHM13,HG00438,HG00621,HG00673,HG00733,HG00735[...]Samples_ID : CHM13,HG00438,HG00621,HG00673,HG00733,HG00735,HG00741,HG01071,HG01106,HG01109,HG01123,HG01175,HG01243,HG01258,HG01358,HG01361,HG01891,HG01928,HG01952,HG01978,HG02055,HG02080,HG02109,HG02145,HG02148,HG02257,HG02486,HG02559,HG02572,HG02622,HG02630,HG02717,HG02723,HG02818,HG02886,HG03098,HG03453,HG03486,HG03492,HG03516,HG03540,HG03579,NA18906,NA20129,NA21309 |
>55513213>55513211ID : >55513213>55513211 |
AGGGAAACTTCTCTTTATAAAGCCATCACATTTTATAGTGAGACT[...]REF : AGGGAAACTTCTCTTTATAAAGCCATCACATTTTATAGTGAGACTTATTCACTGTCACAAGAACGGTTAATAGTGAATGGTAAGGCTTATTCACTGTCACGAGAACAGCATGGGAAAAGCCCGTGATTCAATTACCTCTCACTGGTCCCTCCCATGACACATGGGAATTATGGGAGCTACAATTCAAGATGAGATTTGGGTGGGGACACAGCCAAACCATATCATTCAGCCACTCAAACCTCCCATAGTTTCAGGTGGGTAGAAGCCATTTTCTGAAAGATATAAAGTAACATATGTGTTCAACA |
AALT : A |
60QUAL : 60 |
.FILTER : . |
AC=89; AF=1; AN=89; AT=>55513213>555132[...]INFO : AC=89; AF=1; AN=89; AT=>55513213>55513212>55513211,>55513213>55513211; LV=0; NS=45; e=18165074; s=304; rC=LTR/ERV |
GTFORMAT : GT |
1CHM13 : 1 |
1|1HG00438 : 1|1 |
1|1HG00621 : 1|1 |
1|1HG00673 : 1|1 |
1|1HG00733 : 1|1 |
1|1HG00735 : 1|1 |
1|1HG00741 : 1|1 |
1|1HG01071 : 1|1 |
1|1HG01106 : 1|1 |
1|1HG01109 : 1|1 |
1|1HG01123 : 1|1 |
1|1HG01175 : 1|1 |
1|1HG01243 : 1|1 |
1|1HG01258 : 1|1 |
1|1HG01358 : 1|1 |
1|1HG01361 : 1|1 |
1|1HG01891 : 1|1 |
1|1HG01928 : 1|1 |
1|1HG01952 : 1|1 |
1|1HG01978 : 1|1 |
1|1HG02055 : 1|1 |
1|1HG02080 : 1|1 |
1|1HG02109 : 1|1 |
1|1HG02145 : 1|1 |
1|1HG02148 : 1|1 |
1|1HG02257 : 1|1 |
1|1HG02486 : 1|1 |
1|1HG02559 : 1|1 |
1|1HG02572 : 1|1 |
1|1HG02622 : 1|1 |
1|1HG02630 : 1|1 |
1|1HG02717 : 1|1 |
1|1HG02723 : 1|1 |
1|1HG02818 : 1|1 |
1|1HG02886 : 1|1 |
1|1HG03098 : 1|1 |
1|1HG03453 : 1|1 |
1|1HG03486 : 1|1 |
1|1HG03492 : 1|1 |
1|1HG03516 : 1|1 |
1|1HG03540 : 1|1 |
1|1HG03579 : 1|1 |
1|1NA18906 : 1|1 |
1|1NA20129 : 1|1 |
1|1NA21309 : 1|1 |
|
1ACMG_class : 1 AnnotSV_ranking_score : -1.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2F/4O (cf B_loss_source, -1.00): Completely contained within an established benign CNV region. 2B (cf po_P_loss_source, HI and OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 3A (0 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 255 Gene_count : 0 |
fullAnnotation_mode : full |
.Gene_name : . LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . Closest_left : DCAF12 Closest_right : UBAP1 |
.Location : . CytoBand : p13.3 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
UBAP1 (morbid/RE=GH_enhancer); RE_gene : UBAP1 (morbid/RE=GH_enhancer); |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15132770 po_P_loss_coord : 9:33572682-36782015 po_P_loss_percent : 0.01 |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVar; gnomAD-SV_v3_DEL_chr9_cfa52761B_loss_source : dbVar; gnomAD-SV_v3_DEL_chr9_cfa52761 B_loss_coord : chr9:12951494-85461681; chr9:34140274-34176014 B_loss_AFmax : 0.2226 po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : chr9:34140274-34176014 dbVar; 9:34159866-34160120 1000g; chr9:34159868-34160444 dbVar po_B_loss_someG_coord : chr9:12951494-85461681 gnomAD-SV_v3_DEL_chr9_cfa52761; chr9:34159843-34160120 gnomAD-SV_v3_DEL_chr9_c2af5cf4; chr9:34159866-34160120 dbVar |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 9:34159525-34159820; 9:34159821-34159909; 9:34159910-34160210 Repeat_type_left : AluSz6; ERV3-16A3_I-int; AluSz Gap_left : . GC_content_left : 0.490 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 9:34159910-34160210; 9:34160211-34160336 Repeat_type_right : AluSz; ERV3-16A3_I-int Gap_right : . GC_content_right : 0.490 |
CHM13,HG02630,HG03453,HG03516,HG03540Samples_ID : CHM13,HG02630,HG03453,HG03516,HG03540 |
>42373122>42373119ID : >42373122>42373119 |
TCCTACAGTCAGGCACTTCATCTTTGCCATGGTCAGATGCTGATT[...]REF : TCCTACAGTCAGGCACTTCATCTTTGCCATGGTCAGATGCTGATTATTTTATTTTTTGAGACAGAGCCTCACTCTGTCACCCAGGCTGGAGTGCAGGGGAGCAATCTCAGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCAATTCTCATGCCTCAGCCTCCTGAGTAGCTGGAATTACATGTACACGCCACCACGCCTGGCTAATTTTTGTATTTGTAGTAGAGATGGGGTTTCACCATGTTGGTCAGGCTGGT |
TALT : T |
60QUAL : 60 |
.FILTER : . |
AC=4; AF=0.0449438; AN=89; AT=>42373122>[...]INFO : AC=4; AF=0.0449438; AN=89; AT=>42373122>42373121>42373120>42373119,>42373122>42373119; LV=0; NS=45; e=34160122; s=255; rC=SINE/Alu |
GTFORMAT : GT |
0CHM13 : 0 |
0|0HG00438 : 0|0 |
0|0HG00621 : 0|0 |
0|0HG00673 : 0|0 |
0|0HG00733 : 0|0 |
0|0HG00735 : 0|0 |
0|0HG00741 : 0|0 |
0|0HG01071 : 0|0 |
0|0HG01106 : 0|0 |
0|0HG01109 : 0|0 |
0|0HG01123 : 0|0 |
0|0HG01175 : 0|0 |
0|0HG01243 : 0|0 |
0|0HG01258 : 0|0 |
0|0HG01358 : 0|0 |
0|0HG01361 : 0|0 |
0|0HG01891 : 0|0 |
0|0HG01928 : 0|0 |
0|0HG01952 : 0|0 |
0|0HG01978 : 0|0 |
0|0HG02055 : 0|0 |
0|0HG02080 : 0|0 |
0|0HG02109 : 0|0 |
0|0HG02145 : 0|0 |
0|0HG02148 : 0|0 |
0|0HG02257 : 0|0 |
0|0HG02486 : 0|0 |
0|0HG02559 : 0|0 |
0|0HG02572 : 0|0 |
0|0HG02622 : 0|0 |
1|0HG02630 : 1|0 |
0|0HG02717 : 0|0 |
0|0HG02723 : 0|0 |
0|0HG02818 : 0|0 |
0|0HG02886 : 0|0 |
0|0HG03098 : 0|0 |
0|1HG03453 : 0|1 |
0|0HG03486 : 0|0 |
0|0HG03492 : 0|0 |
1|0HG03516 : 1|0 |
1|0HG03540 : 1|0 |
0|0HG03579 : 0|0 |
0|0NA18906 : 0|0 |
0|0NA20129 : 0|0 |
0|0NA21309 : 0|0 |
|
1ACMG_class : 1 AnnotSV_ranking_score : -1.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2F/4O (cf B_loss_source, -1.00): Completely contained within an established benign CNV region. 2B (cf po_P_loss_source, HI and OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 3A (0 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 179 Gene_count : 0 |
fullAnnotation_mode : full |
.Gene_name : . LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . Closest_left : LOC124902005 Closest_right : LOC102723447 |
.Location : . CytoBand : q23.3 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
RAD21 (HI=3/morbid/RE=EA_enhancer); RE_gene : RAD21 (HI=3/morbid/RE=EA_enhancer); |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv17970321; dbVar:nssv15151541; dbVar:nssv15151850; dbVar:nssv16208869; dbVar:nssv18330293; dbVar:nssv15133980; dbVar:nssv15161519; dbVar:nssv15120344; dbVar:nssv15162472; dbVar:nssv15122156; dbVar:nssv15136462; dbVar:nssv17976991 po_P_loss_coord : 8:106020660-119729778; 8:109238715-122503546; 8:110125077-118885372; 8:110502563-122180134; 8:111222329-132656133; 8:112528343-120083041; 8:113288455-126716087; 8:113418061-120975305; 8:113495858-128027758; 8:113933306-122621741; 8:114560781-122594102; 8:114650539-116706011 po_P_loss_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.01 |
.P_snvindel_nb : . P_snvindel_phen : . |
CMRI:0_pbsv.DEL.1464_duplicate4; HPRC:pbsv.DE[...]B_loss_source : CMRI:0_pbsv.DEL.1464_duplicate4; HPRC:pbsv.DEL.8219; dbVar; esv2662768; gnomAD-SV_v3_DEL_chr8_bf6dffdd B_loss_coord : 8:116387478-116387836; 8:116387572-116387751; chr8:116387572-116387751; chr8:116387572-116387758; chr8:116387572-116387758 B_loss_AFmax : 0.6845 po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : 8:116387572-116387751 CMRI:0_pbsv.DEL.1464_duplicate4; chr8:116387572-116387758 dbVar; po_B_loss_someG_coord : 8:116387478-116387836 esv2662768; chr8:116387572-116387751 HPRC:pbsv.DEL.8219; chr8:116387572-116387758 gnomAD-SV_v3_DEL_chr8_bf6dffdd |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 8:116387384-116387572; 8:116387573-116387748 Repeat_type_left : THE1C; L1P2 Gap_left : . GC_content_left : 0.435 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 8:116387573-116387748; 8:116387749-116387939 Repeat_type_right : L1P2; THE1C Gap_right : . GC_content_right : 0.480 |
CHM13,HG00438,HG00621,HG00673,HG00733,HG00735[...]Samples_ID : CHM13,HG00438,HG00621,HG00673,HG00733,HG00735,HG01071,HG01106,HG01109,HG01123,HG01175,HG01243,HG01891,HG01928,HG01952,HG01978,HG02055,HG02080,HG02109,HG02145,HG02148,HG02257,HG02486,HG02559,HG02572,HG02622,HG02630,HG02717,HG02723,HG02818,HG02886,HG03098,HG03453,HG03486,HG03516,HG03540,HG03579,NA18906,NA20129,NA21309 |
>40258312>40258309ID : >40258312>40258309 |
CTTTTTTAAAGAATGTTGAATATTGGCCCCTACTCTCTTCTGTCT[...]REF : CTTTTTTAAAGAATGTTGAATATTGGCCCCTACTCTCTTCTGTCTTGTAGAGTTTCTGCTGAGAGATCTGCTGTTAGTCTGATGGGCTTCCCTTTGTGGGTAACCCGACATTTCTCTCTGGCTACCGTTAACATTTTTTCCTTCATTTCAACTTTGGTCAATCTGACTATTACGTGTCTTG |
CAALT : CA |
60QUAL : 60 |
.FILTER : . |
AC=66; AF=0.741573; AN=89; AT=>40258312>[...]INFO : AC=66; AF=0.741573; AN=89; AT=>40258312>40258311>40258309,>40258312>40258310>40258309; CONFLICT=HG02886; LV=0; NS=45; e=116387752; s=180; rC=LINE/L1 |
GTFORMAT : GT |
0CHM13 : 0 |
1|1HG00438 : 1|1 |
1|1HG00621 : 1|1 |
0|1HG00673 : 0|1 |
0|1HG00733 : 0|1 |
0|1HG00735 : 0|1 |
0|0HG00741 : 0|0 |
1|0HG01071 : 1|0 |
1|0HG01106 : 1|0 |
1|1HG01109 : 1|1 |
1|1HG01123 : 1|1 |
0|1HG01175 : 0|1 |
0|1HG01243 : 0|1 |
0|0HG01258 : 0|0 |
0|0HG01358 : 0|0 |
0|0HG01361 : 0|0 |
1|1HG01891 : 1|1 |
0|1HG01928 : 0|1 |
1|0HG01952 : 1|0 |
0|1HG01978 : 0|1 |
1|1HG02055 : 1|1 |
1|0HG02080 : 1|0 |
1|1HG02109 : 1|1 |
1|1HG02145 : 1|1 |
1|0HG02148 : 1|0 |
1|1HG02257 : 1|1 |
1|1HG02486 : 1|1 |
1|1HG02559 : 1|1 |
1|1HG02572 : 1|1 |
1|1HG02622 : 1|1 |
1|1HG02630 : 1|1 |
1|1HG02717 : 1|1 |
1|1HG02723 : 1|1 |
1|1HG02818 : 1|1 |
1|1HG02886 : 1|1 |
1|1HG03098 : 1|1 |
1|1HG03453 : 1|1 |
1|1HG03486 : 1|1 |
0|0HG03492 : 0|0 |
1|1HG03516 : 1|1 |
1|1HG03540 : 1|1 |
1|1HG03579 : 1|1 |
1|1NA18906 : 1|1 |
1|1NA20129 : 1|1 |
1|1NA21309 : 1|1 |
|
1ACMG_class : 1 AnnotSV_ranking_score : -1.6 AnnotSV_ranking_criteria : 1B (cf Gene_count, RE_gene, -0.60): Does NOT contain protein-coding or any known functionally important elements. 2F/4O (cf B_loss_source, -1.00): Completely contained within an established benign CNV region. 3A (0 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 192 Gene_count : 0 |
fullAnnotation_mode : full |
.Gene_name : . LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . Closest_left : ZBTB9 Closest_right : LOC107986537 |
.Location : . CytoBand : p21.31 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : . po_P_loss_coord : . po_P_loss_percent : . |
.P_snvindel_nb : . P_snvindel_phen : . |
gnomAD-SV_v3_DEL_chr6_f0914d13B_loss_source : gnomAD-SV_v3_DEL_chr6_f0914d13 B_loss_coord : chr6:31328328-33520997 B_loss_AFmax : 0.1349 po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : 6:33507955-33508147 CMRI:12_pbsv.DEL.711 po_B_loss_someG_coord : chr6:31328328-33520997 gnomAD-SV_v3_DEL_chr6_f0914d13 |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 6:33507622-33507915; 6:33507916-33507965; 6:33507966-33508107 Repeat_type_left : AluSx1; MER112; AluSx Gap_left : . GC_content_left : 0.500 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 6:33507966-33508107; 6:33508112-33508158; 6:33508160-33508459 Repeat_type_right : AluSx; MER112; AluSq2 Gap_right : . GC_content_right : 0.535 |
CHM13,HG00438,HG00621,HG00673,HG00733,HG00735[...]Samples_ID : CHM13,HG00438,HG00621,HG00673,HG00733,HG00735,HG00741,HG01071,HG01106,HG01109,HG01123,HG01175,HG01243,HG01258,HG01358,HG01361,HG01891,HG01928,HG01952,HG01978,HG02055,HG02080,HG02109,HG02145,HG02148,HG02257,HG02486,HG02559,HG02572,HG02622,HG02630,HG02717,HG02723,HG02818,HG02886,HG03098,HG03453,HG03486,HG03492,HG03516,HG03540,HG03579,NA18906,NA20129,NA21309 |
>30890223>30890225ID : >30890223>30890225 |
CCAGTTAGTTTTTGTATTTTTAGGAGAGATGGGTTTTCGCCATGT[...]REF : CCAGTTAGTTTTTGTATTTTTAGGAGAGATGGGTTTTCGCCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCCCAGGTGATCTGCCTGCTTCGGCCTCCCAAAGTGCTGGGATTACAGACGTGAGCCACTGGGCCCTGTCTAAAATATATTTCTTACTGTGGGTCCTAGTCAAAAAAGTTTGAAAGCAGGCC |
CALT : C |
60QUAL : 60 |
.FILTER : . |
AC=89; AF=1; AN=89; AT=>30890223>308902[...]INFO : AC=89; AF=1; AN=89; AT=>30890223>30890224>30890225,>30890223>30890225; LV=0; NS=45; e=33508163; s=192; rC=SINE/Alu |
GTFORMAT : GT |
1CHM13 : 1 |
1|1HG00438 : 1|1 |
1|1HG00621 : 1|1 |
1|1HG00673 : 1|1 |
1|1HG00733 : 1|1 |
1|1HG00735 : 1|1 |
1|1HG00741 : 1|1 |
1|1HG01071 : 1|1 |
1|1HG01106 : 1|1 |
1|1HG01109 : 1|1 |
1|1HG01123 : 1|1 |
1|1HG01175 : 1|1 |
1|1HG01243 : 1|1 |
1|1HG01258 : 1|1 |
1|1HG01358 : 1|1 |
1|1HG01361 : 1|1 |
1|1HG01891 : 1|1 |
1|1HG01928 : 1|1 |
1|1HG01952 : 1|1 |
1|1HG01978 : 1|1 |
1|1HG02055 : 1|1 |
1|1HG02080 : 1|1 |
1|1HG02109 : 1|1 |
1|1HG02145 : 1|1 |
1|1HG02148 : 1|1 |
1|1HG02257 : 1|1 |
1|1HG02486 : 1|1 |
1|1HG02559 : 1|1 |
1|1HG02572 : 1|1 |
1|1HG02622 : 1|1 |
1|1HG02630 : 1|1 |
1|1HG02717 : 1|1 |
1|1HG02723 : 1|1 |
1|1HG02818 : 1|1 |
1|1HG02886 : 1|1 |
1|1HG03098 : 1|1 |
1|1HG03453 : 1|1 |
1|1HG03486 : 1|1 |
1|1HG03492 : 1|1 |
1|1HG03516 : 1|1 |
1|1HG03540 : 1|1 |
1|1HG03579 : 1|1 |
1|1NA18906 : 1|1 |
1|1NA20129 : 1|1 |
1|1NA21309 : 1|1 |
|
1ACMG_class : 1 AnnotSV_ranking_score : -1.6 AnnotSV_ranking_criteria : 1B (cf Gene_count, RE_gene, -0.60): Does NOT contain protein-coding or any known functionally important elements. 2F/4O (cf B_loss_source, -1.00): Completely contained within an established benign CNV region. 2B (cf po_P_loss_source, HI and OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 3A (0 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 523 Gene_count : 0 |
fullAnnotation_mode : full |
.Gene_name : . LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . Closest_left : PRDM6 Closest_right : CEP120 |
.Location : . CytoBand : q23.2 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15151179; dbVar:nssv15143209; nssv17976344; dbVar:nssv15138054; dbVar:nssv15139660; dbVar:nssv17970043; dbVar:nssv15146464; dbVar:nssv15138803; dbVar:nssv15136701; dbVar:nssv15133621; dbVar:nssv18329255; dbVar:nssv15132819; dbVar:nssv15119917; dbVar:nssv15133406; dbVar:nssv15121078; dbVar:nssv15126271 po_P_loss_coord : 5:17628633-177148719; 5:87104184-154620440; 5:90374607-128076423; 5:91411709-131319563; 5:101272215-126565043; 5:106619589-156124387; 5:108308464-125777797; 5:110687443-130103838; 5:111463017-127193038; 5:113221695-128770606; 5:114707562-126507744; 5:116677123-132686163; 5:120695676-124525372; 5:120739631-126823984; 5:123072609-130670586 po_P_loss_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.01; 0.01; 0.01 |
.P_snvindel_nb : . P_snvindel_phen : . |
CMRI:0_pbsv.DEL.1548_duplicate3; HPRC:pbsv.DE[...]B_loss_source : CMRI:0_pbsv.DEL.1548_duplicate3; HPRC:pbsv.DEL.8833; IMH B_loss_coord : 5:123236708-123251656; 5:123236804-123237327; chr5:123236804-123237327 B_loss_AFmax : 0.4402 po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : 5:123236804-123237327 CMRI:0_pbsv.DEL.1548_duplicate3; po_B_loss_someG_coord : 5:123236708-123251656 IMH; chr5:123236804-123237327 HPRC:pbsv.DEL.8833 |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 5:123236612-123242616 Repeat_type_left : L1PA2 Gap_left : . GC_content_left : 0.460 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 5:123236612-123242616 Repeat_type_right : L1PA2 Gap_right : . GC_content_right : 0.385 |
CHM13,HG00741,HG01123,HG01258,HG01361,HG01891[...]Samples_ID : CHM13,HG00741,HG01123,HG01258,HG01361,HG01891,HG02055,HG02109,HG02145,HG02257,HG02486,HG02559,HG02572,HG02622,HG02630,HG02717,HG02723,HG02818,HG02886,HG03453,HG03486,HG03492,HG03516,HG03540,HG03579,NA18906,NA20129,NA21309 |
>26238626>26238624ID : >26238626>26238624 |
CTGTGTCCATGTGATCTCATTGTTCAATTCCCACCTATGAGTGAG[...]REF : CTGTGTCCATGTGATCTCATTGTTCAATTCCCACCTATGAGTGAGAATATGCGGTGTTTGGTTTTTTGTTCTTGCGATAGTTTACTGAGAATGATGTTTTCCAATTTCATCCATGTCCCTACAAAGGACATGAACTCATCATTTTTTATGGCTGCATAGTATTCCATGGTGTATATGTGCCACATTTTCTTAATCCAGTCTATCATTGTTGGACATTTGGGTTGGTTCCAAGTCTTTGCTATTGTGAATAATGCCGCAATAAACATACGTGTGCATGTGTCTTTATAGCAGCATGATTTATAGTCCTTTGGGTATATACCCAGTAATGGGATGGCTGGGTCAAATGGTATTTCTAGTTCTAGATCCCTGAGGAATCGCCACACTGACTTCCACAATGGTTGAACTAGTTTACAGTCCCACCAACAGTGTAAAAGTGTTCCTATTTCTCCACATCCTCTCCAGCACCTGTTGTTTCCTGACTTTTTAATGATCGCCATTCTAACTGGTGTGAGATGGTATCTCAT |
CALT : C |
60QUAL : 60 |
.FILTER : . |
AC=37; AF=0.41573; AN=89; AT=>26238626>[...]INFO : AC=37; AF=0.41573; AN=89; AT=>26238626>26238625>26238624,>26238626>26238624; LV=1; NS=45; PS=>25662516>25796736; e=123237327; s=523; rC=LINE/L1 |
GTFORMAT : GT |
1CHM13 : 1 |
0|0HG00438 : 0|0 |
0|0HG00621 : 0|0 |
0|0HG00673 : 0|0 |
0|0HG00733 : 0|0 |
0|0HG00735 : 0|0 |
1|0HG00741 : 1|0 |
0|0HG01071 : 0|0 |
0|0HG01106 : 0|0 |
0|0HG01109 : 0|0 |
1|0HG01123 : 1|0 |
0|0HG01175 : 0|0 |
0|0HG01243 : 0|0 |
1|0HG01258 : 1|0 |
0|0HG01358 : 0|0 |
0|1HG01361 : 0|1 |
0|1HG01891 : 0|1 |
0|0HG01928 : 0|0 |
0|0HG01952 : 0|0 |
0|0HG01978 : 0|0 |
0|1HG02055 : 0|1 |
0|0HG02080 : 0|0 |
1|0HG02109 : 1|0 |
0|1HG02145 : 0|1 |
0|0HG02148 : 0|0 |
1|1HG02257 : 1|1 |
0|1HG02486 : 0|1 |
0|1HG02559 : 0|1 |
1|1HG02572 : 1|1 |
1|0HG02622 : 1|0 |
1|1HG02630 : 1|1 |
0|1HG02717 : 0|1 |
1|0HG02723 : 1|0 |
1|1HG02818 : 1|1 |
0|1HG02886 : 0|1 |
0|0HG03098 : 0|0 |
1|1HG03453 : 1|1 |
1|0HG03486 : 1|0 |
1|0HG03492 : 1|0 |
1|1HG03516 : 1|1 |
1|1HG03540 : 1|1 |
0|1HG03579 : 0|1 |
0|1NA18906 : 0|1 |
1|1NA20129 : 1|1 |
1|1NA21309 : 1|1 |
|
1ACMG_class : 1 AnnotSV_ranking_score : -1.6 AnnotSV_ranking_criteria : 1B (cf Gene_count, RE_gene, -0.60): Does NOT contain protein-coding or any known functionally important elements. 2F/4O (cf B_loss_source, -1.00): Completely contained within an established benign CNV region. 2B (cf po_P_loss_source, HI and OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 3A (0 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 169 Gene_count : 0 |
fullAnnotation_mode : full |
.Gene_name : . LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . Closest_left : LOC105379063 Closest_right : NBPF22P |
.Location : . CytoBand : q14.3 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15151179; dbVar:nssv17970035; dbVar:nssv15776629; dbVar:nssv15138006; dbVar:nssv15127576; dbVar:nssv15132648 po_P_loss_coord : 5:17628633-177148719; 5:82890133-90814637; 5:84201742-89120537; 5:84603581-111435081; 5:85749808-90006821; 5:85876481-88958682 po_P_loss_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.01 |
.P_snvindel_nb : . P_snvindel_phen : . |
CMRI:0_pbsv.DEL.1170; HPRC:pbsv.DEL.6767; dbV[...]B_loss_source : CMRI:0_pbsv.DEL.1170; HPRC:pbsv.DEL.6767; dbVar; gnomAD-SV_v3_DEL_chr5_36843d0f B_loss_coord : chr5:86087768-86149235; chr5:86109120-86109692; chr5:86109315-86109692; 5:86109523-86109692; chr5:86109523-86109692; chr5:86109523-86109692 B_loss_AFmax : 0.4263 po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : chr5:86109120-86109692 gnomAD-SV_v3_DEL_chr5_36843d0f; 5:86109523-86109692 CMRI:0_pbsv.DEL.1170; chr5:86109523-86109692 dbVar; 5:86109524-86109692 IMH; 5:86109524-86109692 esv2669543 po_B_loss_someG_coord : chr5:86087768-86149235 dbVar; chr5:86109315-86109692 dbVar; chr5:86109523-86109692 HPRC:pbsv.DEL.6767; 5:86109524-86109692 1000g; chr5:86109524-86109692 dbVar |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 5:86108263-86109849 Repeat_type_left : THE1B-int Gap_left : . GC_content_left : 0.500 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 5:86108263-86109849 Repeat_type_right : THE1B-int Gap_right : . GC_content_right : 0.440 |
CHM13,HG00741,HG01106,HG01175,HG01258,HG01891[...]Samples_ID : CHM13,HG00741,HG01106,HG01175,HG01258,HG01891,HG02109,HG02145,HG02257,HG02572,HG02622,HG02723,HG02886,HG03486,HG03492,NA21309 |
>25610502>25610504ID : >25610502>25610504 |
AAGGAGATCATTTTGGAGCTTTAAGATTTGACTGCCCCGTTGGAT[...]REF : AAGGAGATCATTTTGGAGCTTTAAGATTTGACTGCCCCGTTGGATTGTGGACTTGCATGGAGCCTGCAGCCCCTTTATTTTGGCCAATTTCTCCCATTTGAAATGGCTGTATTTACCCAATGCCTGTACCCCCATTGTATCTAGGAAGTAACTTACGTGCTTTTGATTTT |
AALT : A |
60QUAL : 60 |
.FILTER : . |
AC=16; AF=0.179775; AN=89; AT=>25610502>[...]INFO : AC=16; AF=0.179775; AN=89; AT=>25610502>25610503>25610504,>25610502>25610504; LV=0; NS=45; e=86109692; s=169; rC=LTR/ERV |
GTFORMAT : GT |
0CHM13 : 0 |
0|0HG00438 : 0|0 |
0|0HG00621 : 0|0 |
0|0HG00673 : 0|0 |
0|0HG00733 : 0|0 |
0|0HG00735 : 0|0 |
1|0HG00741 : 1|0 |
0|0HG01071 : 0|0 |
0|1HG01106 : 0|1 |
0|0HG01109 : 0|0 |
0|0HG01123 : 0|0 |
1|1HG01175 : 1|1 |
0|0HG01243 : 0|0 |
1|0HG01258 : 1|0 |
0|0HG01358 : 0|0 |
0|0HG01361 : 0|0 |
0|1HG01891 : 0|1 |
0|0HG01928 : 0|0 |
0|0HG01952 : 0|0 |
0|0HG01978 : 0|0 |
0|0HG02055 : 0|0 |
0|0HG02080 : 0|0 |
0|1HG02109 : 0|1 |
1|0HG02145 : 1|0 |
0|0HG02148 : 0|0 |
0|1HG02257 : 0|1 |
0|0HG02486 : 0|0 |
0|0HG02559 : 0|0 |
0|1HG02572 : 0|1 |
0|1HG02622 : 0|1 |
0|0HG02630 : 0|0 |
0|0HG02717 : 0|0 |
0|1HG02723 : 0|1 |
0|0HG02818 : 0|0 |
0|1HG02886 : 0|1 |
0|0HG03098 : 0|0 |
0|0HG03453 : 0|0 |
1|0HG03486 : 1|0 |
0|1HG03492 : 0|1 |
0|0HG03516 : 0|0 |
0|0HG03540 : 0|0 |
0|0HG03579 : 0|0 |
0|0NA18906 : 0|0 |
0|0NA20129 : 0|0 |
1|0NA21309 : 1|0 |
|
1ACMG_class : 1 AnnotSV_ranking_score : -1.6 AnnotSV_ranking_criteria : 1B (cf Gene_count, RE_gene, -0.60): Does NOT contain protein-coding or any known functionally important elements. 2F/4O (cf B_loss_source, -1.00): Completely contained within an established benign CNV region. 2B (cf po_P_loss_source, HI and OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 3A (0 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 137 Gene_count : 0 |
fullAnnotation_mode : full |
.Gene_name : . LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . Closest_left : LOC105377558 Closest_right : AGA |
.Location : . CytoBand : q34.3 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv18326362; dbVar:nssv15152113; dbVar:nssv15132960; dbVar:nssv16207997; dbVar:nssv15137721; dbVar:nssv15771866; dbVar:nssv15137165; dbVar:nssv15138188; dbVar:nssv18326350; dbVar:nssv15138242; dbVar:nssv16255838; dbVar:nssv15137063; dbVar:nssv15153643; dbVar:nssv15138081; dbVar:nssv15755195; dbVar:nssv15605865; dbVar:nssv15139244; dbVar:nssv15134400; dbVar:nssv15121231; dbVar:nssv15134401; dbVar:nssv15139216; dbVar:nssv15132053; dbVar:nssv15605960; dbVar:nssv15133203; dbVar:nssv15121771; dbVar:nssv15122775; dbVar:nssv17976754; dbVar:nssv15119905; dbVar:nssv15151171; dbVar:nssv15152882; dbVar:nssv15132961; dbVar:nssv15123452; nssv15151652; dbVar:nssv15133415; dbVar:nssv15153646; dbVar:nssv15772005; dbVar:nssv15139934; dbVar:nssv15166217; dbVar:nssv15755207; dbVar:nssv15124055 po_P_loss_coord : 4:158253332-190036318; 4:161284559-181408730; 4:164039531-189982708; 4:164089310-190036318; 4:165281037-190018185; 4:165702739-190036318; 4:166317588-190095391; 4:166630208-179820960; 4:166858738-190036318; 4:167373717-190036318; 4:168187208-183504383; 4:168970401-186936738; 4:169047864-190036318; 4:169873509-190018185; 4:170395823-179711352; 4:170742470-189510275; 4:170899125-190036318; 4:171507705-189869726; 4:171851296-178772816; 4:172356989-189975519; 4:172501375-190095332; 4:173599912-188624331; 4:173689342-189506391; 4:173754676-189343295; 4:173854561-189548183; 4:173989030-189975519; 4:174022982-190036318; 4:174080893-183195538; 4:174150184-188259055; 4:174788038-190036318; 4:175013056-181652375; 4:175349736-189792496; 4:175483684-189975519; 4:175572096-190036318; 4:176268756-189895111; 4:176756633-189621964; 4:177061515-183008428; 4:177253838-178021531; 4:177322472-189792496 po_P_loss_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.02; 0.00 |
.P_snvindel_nb : . P_snvindel_phen : . |
gnomAD-SV_v3_DEL_chr4_aa7116c9B_loss_source : gnomAD-SV_v3_DEL_chr4_aa7116c9 B_loss_coord : chr4:73564711-189048534 B_loss_AFmax : 0.2162 po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : chr4:73564711-189048534 gnomAD-SV_v3_DEL_chr4_aa7116c9 |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 4:177414710-177414977; 4:177414988-177415103 Repeat_type_left : AluJb; FLAM_A Gap_left : . GC_content_left : 0.485 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 4:177414710-177414977; 4:177414988-177415103; 4:177415104-177417378 Repeat_type_right : AluJb; FLAM_A; Tigger1 Gap_right : . GC_content_right : 0.395 |
CHM13,HG00438,HG00621,HG00673,HG00733,HG00735[...]Samples_ID : CHM13,HG00438,HG00621,HG00673,HG00733,HG00735,HG00741,HG01071,HG01106,HG01109,HG01123,HG01175,HG01243,HG01258,HG01358,HG01361,HG01891,HG01928,HG01952,HG01978,HG02055,HG02080,HG02109,HG02145,HG02148,HG02257,HG02486,HG02559,HG02572,HG02622,HG02630,HG02717,HG02723,HG02818,HG02886,HG03098,HG03453,HG03486,HG03492,HG03516,HG03540,HG03579,NA18906,NA20129,NA21309 |
>22160757>22160755ID : >22160757>22160755 |
GCCTAAGCAACTGAGTAAGACCCCCATCTCTACAAAAATAAATAA[...]REF : GCCTAAGCAACTGAGTAAGACCCCCATCTCTACAAAAATAAATAATGATTAACTGGGTGTGGTGGTGGGCACCTGCAGTCTTAGCTACTCAGGAGACTGAGGCGGGAGGATTGCTTGAGGCCAGGAGTTTGAGACCAG |
GALT : G |
60QUAL : 60 |
.FILTER : . |
AC=89; AF=1; AN=89; AT=>22160757>221607[...]INFO : AC=89; AF=1; AN=89; AT=>22160757>22160756>22160755,>22160757>22160755; LV=0; NS=45; e=177415073; s=137; rC=SINE/Alu |
GTFORMAT : GT |
1CHM13 : 1 |
1|1HG00438 : 1|1 |
1|1HG00621 : 1|1 |
1|1HG00673 : 1|1 |
1|1HG00733 : 1|1 |
1|1HG00735 : 1|1 |
1|1HG00741 : 1|1 |
1|1HG01071 : 1|1 |
1|1HG01106 : 1|1 |
1|1HG01109 : 1|1 |
1|1HG01123 : 1|1 |
1|1HG01175 : 1|1 |
1|1HG01243 : 1|1 |
1|1HG01258 : 1|1 |
1|1HG01358 : 1|1 |
1|1HG01361 : 1|1 |
1|1HG01891 : 1|1 |
1|1HG01928 : 1|1 |
1|1HG01952 : 1|1 |
1|1HG01978 : 1|1 |
1|1HG02055 : 1|1 |
1|1HG02080 : 1|1 |
1|1HG02109 : 1|1 |
1|1HG02145 : 1|1 |
1|1HG02148 : 1|1 |
1|1HG02257 : 1|1 |
1|1HG02486 : 1|1 |
1|1HG02559 : 1|1 |
1|1HG02572 : 1|1 |
1|1HG02622 : 1|1 |
1|1HG02630 : 1|1 |
1|1HG02717 : 1|1 |
1|1HG02723 : 1|1 |
1|1HG02818 : 1|1 |
1|1HG02886 : 1|1 |
1|1HG03098 : 1|1 |
1|1HG03453 : 1|1 |
1|1HG03486 : 1|1 |
1|1HG03492 : 1|1 |
1|1HG03516 : 1|1 |
1|1HG03540 : 1|1 |
1|1HG03579 : 1|1 |
1|1NA18906 : 1|1 |
1|1NA20129 : 1|1 |
1|1NA21309 : 1|1 |
|
1ACMG_class : 1 AnnotSV_ranking_score : -1.6 AnnotSV_ranking_criteria : 1B (cf Gene_count, RE_gene, -0.60): Does NOT contain protein-coding or any known functionally important elements. 2F/4O (cf B_loss_source, -1.00): Completely contained within an established benign CNV region. 2B (cf po_P_loss_source, HI and OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 3A (0 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 167 Gene_count : 0 |
fullAnnotation_mode : full |
.Gene_name : . LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . Closest_left : LINC02477 Closest_right : LOC105377513 |
.Location : . CytoBand : q32.2 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15142869; dbVar:nssv15139391; dbVar:nssv16867396; dbVar:nssv18326362 po_P_loss_coord : 4:152282280-161991207; 4:155162983-170959553; 4:156850201-171575127; 4:158253332-190036318 po_P_loss_percent : 0.00; 0.00; 0.00; 0.00 |
.P_snvindel_nb : . P_snvindel_phen : . |
CMRI:0_pbsv.DEL.1956_duplicate2; HPRC:pbsv.DE[...]B_loss_source : CMRI:0_pbsv.DEL.1956_duplicate2; HPRC:pbsv.DEL.11084; dbVar; gnomAD-SV_v3_DEL_chr4_aa7116c9; gnomAD-SV_v3_DEL_chr4_d05be2be; gnomAD-SV_v3_DEL_chr4_e8bd9f62 B_loss_coord : chr4:73564711-189048534; chr4:90675744-168705093; chr4:160830877-160831446; chr4:160830946-160831446; 4:160831279-160831446; chr4:160831279-160831446 B_loss_AFmax : 0.2162 po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : chr4:90675744-168705093 gnomAD-SV_v3_DEL_chr4_e8bd9f62; chr4:160830946-160831446 gnomAD-SV_v3_DEL_chr4_d05be2be; chr4:160831279-160831446 HPRC:pbsv.DEL.11084; 4:160831280-160831446 IMH; 4:160831280-160831446 esv2666178 po_B_loss_someG_coord : chr4:73564711-189048534 gnomAD-SV_v3_DEL_chr4_aa7116c9; chr4:160830877-160831446 dbVar; 4:160831279-160831446 CMRI:0_pbsv.DEL.1956_duplicate2; 4:160831280-160831446 1000g; chr4:160831280-160831446 dbVar |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 4:160830870-160831461 Repeat_type_left : LTR77 Gap_left : . GC_content_left : 0.390 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 4:160830870-160831461 Repeat_type_right : LTR77 Gap_right : . GC_content_right : 0.420 |
CHM13,HG00733,HG00735,HG01109,HG01258,HG02055[...]Samples_ID : CHM13,HG00733,HG00735,HG01109,HG01258,HG02055,HG02145,HG02622,HG02818,HG03486,HG03516 |
>21618594>21618592ID : >21618594>21618592 |
TGCACCTGTGCCTAAGTTGGGACAGTCCCTTCTGACCAAACATTC[...]REF : TGCACCTGTGCCTAAGTTGGGACAGTCCCTTCTGACCAAACATTCTAGCATAAGAGGAAGTTCTTAATCACATTTCTTCCCACTACCTACAGGGTAGTGCAGGTATGGTCCTGCGGTTGTTTTTCCTCTCCTGAGATCCTCCCTCTCTATCTGCCAAGTTGGCTTCTA |
TALT : T |
60QUAL : 60 |
.FILTER : . |
AC=11; AF=0.123596; AN=89; AT=>21618594>[...]INFO : AC=11; AF=0.123596; AN=89; AT=>21618594>21618593>21618592,>21618594>21618592; CONFLICT=HG01891; LV=0; NS=45; e=160831446; s=167; rC=LTR/ERV |
GTFORMAT : GT |
0CHM13 : 0 |
0|0HG00438 : 0|0 |
0|0HG00621 : 0|0 |
0|0HG00673 : 0|0 |
1|0HG00733 : 1|0 |
1|0HG00735 : 1|0 |
0|0HG00741 : 0|0 |
0|0HG01071 : 0|0 |
0|0HG01106 : 0|0 |
0|1HG01109 : 0|1 |
0|0HG01123 : 0|0 |
0|0HG01175 : 0|0 |
0|0HG01243 : 0|0 |
0|1HG01258 : 0|1 |
0|0HG01358 : 0|0 |
0|0HG01361 : 0|0 |
0|0HG01891 : 0|0 |
0|0HG01928 : 0|0 |
0|0HG01952 : 0|0 |
0|0HG01978 : 0|0 |
1|0HG02055 : 1|0 |
0|0HG02080 : 0|0 |
0|0HG02109 : 0|0 |
0|1HG02145 : 0|1 |
0|0HG02148 : 0|0 |
0|0HG02257 : 0|0 |
0|0HG02486 : 0|0 |
0|0HG02559 : 0|0 |
0|0HG02572 : 0|0 |
1|0HG02622 : 1|0 |
0|0HG02630 : 0|0 |
0|0HG02717 : 0|0 |
0|0HG02723 : 0|0 |
0|1HG02818 : 0|1 |
0|0HG02886 : 0|0 |
0|0HG03098 : 0|0 |
0|0HG03453 : 0|0 |
1|1HG03486 : 1|1 |
0|0HG03492 : 0|0 |
1|0HG03516 : 1|0 |
0|0HG03540 : 0|0 |
0|0HG03579 : 0|0 |
0|0NA18906 : 0|0 |
0|0NA20129 : 0|0 |
0|0NA21309 : 0|0 |
|
1ACMG_class : 1 AnnotSV_ranking_score : -1.6 AnnotSV_ranking_criteria : 1B (cf Gene_count, RE_gene, -0.60): Does NOT contain protein-coding or any known functionally important elements. 2F/4O (cf B_loss_source, -1.00): Completely contained within an established benign CNV region. 2B (cf po_P_loss_source, HI and OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 3A (0 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 160 Gene_count : 0 |
fullAnnotation_mode : full |
.Gene_name : . LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . Closest_left : MIR1269A Closest_right : LOC105377262 |
.Location : . CytoBand : q13.2 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv17173265; dbVar:nssv15165214; dbVar:nssv15125766; dbVar:nssv15755202; dbVar:nssv17969950; dbVar:nssv15141158; dbVar:nssv15132956 po_P_loss_coord : 4:51891815-76009719; 4:57466129-70721898; 4:58301080-100989502; 4:60739739-67897225; 4:61001838-73845800; 4:65151858-75851794; 4:65454563-72313693 po_P_loss_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00 |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVar; gnomAD-SV_v3_DEL_chr4_48ff321aB_loss_source : dbVar; gnomAD-SV_v3_DEL_chr4_48ff321a B_loss_coord : chr4:65506280-67062809; chr4:66653598-66773445 B_loss_AFmax : 0.0641 po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : chr4:66653598-66773445 dbVar; chr4:66711856-66712016 HPRC:pbsv.DEL.5762 po_B_loss_someG_coord : chr4:65506280-67062809 gnomAD-SV_v3_DEL_chr4_48ff321a; 4:66711856-66712016 CMRI:4_pbsv.DEL.1577 |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 4:66711221-66712976 Repeat_type_left : LTR12C Gap_left : . GC_content_left : 0.465 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 4:66711221-66712976 Repeat_type_right : LTR12C Gap_right : . GC_content_right : 0.470 |
CHM13,HG02109,HG02145,HG02486,HG02559,HG02622[...]Samples_ID : CHM13,HG02109,HG02145,HG02486,HG02559,HG02622,HG02630,HG02717,HG02723,HG03098,HG03453,HG03540,HG03579,NA20129 |
>19732332>19732334ID : >19732332>19732334 |
AGCTAGATACAAAGTGCCAATTGGTGTATTTACAATCCCTGAGCT[...]REF : AGCTAGATACAAAGTGCCAATTGGTGTATTTACAATCCCTGAGCTAGACATAAAGGTTCTCTGAGGCCCCACCAGAGTAGCTAGATACAGAGTGTCGATTGGTGCATTCACAAACCCTGAGCTAGACACAGGGTGCTGATTGGTGTGTTTACAAACCTTGA |
AALT : A |
60QUAL : 60 |
.FILTER : . |
AC=15; AF=0.168539; AN=89; AT=>19732332>[...]INFO : AC=15; AF=0.168539; AN=89; AT=>19732332>19732333>19732334,>19732332>19732334; LV=0; NS=45; e=66712097; s=160; rC=LTR/ERV |
GTFORMAT : GT |
0CHM13 : 0 |
0|0HG00438 : 0|0 |
0|0HG00621 : 0|0 |
0|0HG00673 : 0|0 |
0|0HG00733 : 0|0 |
0|0HG00735 : 0|0 |
0|0HG00741 : 0|0 |
0|0HG01071 : 0|0 |
0|0HG01106 : 0|0 |
0|0HG01109 : 0|0 |
0|0HG01123 : 0|0 |
0|0HG01175 : 0|0 |
0|0HG01243 : 0|0 |
0|0HG01258 : 0|0 |
0|0HG01358 : 0|0 |
0|0HG01361 : 0|0 |
0|0HG01891 : 0|0 |
0|0HG01928 : 0|0 |
0|0HG01952 : 0|0 |
0|0HG01978 : 0|0 |
0|0HG02055 : 0|0 |
0|0HG02080 : 0|0 |
1|0HG02109 : 1|0 |
1|1HG02145 : 1|1 |
0|0HG02148 : 0|0 |
0|0HG02257 : 0|0 |
0|1HG02486 : 0|1 |
1|1HG02559 : 1|1 |
0|0HG02572 : 0|0 |
1|0HG02622 : 1|0 |
0|1HG02630 : 0|1 |
0|1HG02717 : 0|1 |
0|1HG02723 : 0|1 |
0|0HG02818 : 0|0 |
0|0HG02886 : 0|0 |
0|1HG03098 : 0|1 |
1|0HG03453 : 1|0 |
0|0HG03486 : 0|0 |
0|0HG03492 : 0|0 |
0|0HG03516 : 0|0 |
0|1HG03540 : 0|1 |
0|1HG03579 : 0|1 |
0|0NA18906 : 0|0 |
0|1NA20129 : 0|1 |
0|0NA21309 : 0|0 |
|
1ACMG_class : 1 AnnotSV_ranking_score : -1.6 AnnotSV_ranking_criteria : 1B (cf Gene_count, RE_gene, -0.60): Does NOT contain protein-coding or any known functionally important elements. 2F/4O (cf B_loss_source, -1.00): Completely contained within an established benign CNV region. 2B (cf po_P_loss_source, HI and OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 3A (0 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 134 Gene_count : 0 |
fullAnnotation_mode : full |
.Gene_name : . LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . Closest_left : LOC124900851 Closest_right : TECRL |
.Location : . CytoBand : q13.1 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv17173265; dbVar:nssv15165214; dbVar:nssv15125766; dbVar:nssv15755202; dbVar:nssv17969950 po_P_loss_coord : 4:51891815-76009719; 4:57466129-70721898; 4:58301080-100989502; 4:60739739-67897225; 4:61001838-73845800 po_P_loss_percent : 0.00; 0.00; 0.00; 0.00; 0.00 |
.P_snvindel_nb : . P_snvindel_phen : . |
DDD:13925; dbVarB_loss_source : DDD:13925; dbVar B_loss_coord : chr4:63452671-64357231; 4:64273482-64279980 B_loss_AFmax : 0.0107 po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : 4:64273482-64279980 DDD:13925; po_B_loss_someG_coord : chr4:63452671-64357231 dbVar; 4:64273977-64274111 CMRI:4_pbsv.DEL.1522_duplicate3 |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 4:64273860-64274163; 4:64274167-64274298 Repeat_type_left : AluSp; AluSp Gap_left : . GC_content_left : 0.535 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 4:64273860-64274163; 4:64274167-64274298 Repeat_type_right : AluSp; AluSp Gap_right : . GC_content_right : 0.550 |
CHM13,HG02145,HG02486,HG02886,HG03579Samples_ID : CHM13,HG02145,HG02486,HG02886,HG03579 |
>19663400>19663402ID : >19663400>19663402 |
TTGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCGC[...]REF : TTGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGCGCCACCATGCCTGGCTAATTTTGTATTTTTAGTAGAGACGGCATTTCTCCATGTT |
TALT : T |
60QUAL : 60 |
.FILTER : . |
AC=4; AF=0.0449438; AN=89; AT=>19663400>[...]INFO : AC=4; AF=0.0449438; AN=89; AT=>19663400>19663401>19663402,>19663400>19663402; LV=0; NS=45; e=64274203; s=134; rC=SINE/Alu |
GTFORMAT : GT |
0CHM13 : 0 |
0|0HG00438 : 0|0 |
0|0HG00621 : 0|0 |
0|0HG00673 : 0|0 |
0|0HG00733 : 0|0 |
0|0HG00735 : 0|0 |
0|0HG00741 : 0|0 |
0|0HG01071 : 0|0 |
0|0HG01106 : 0|0 |
0|0HG01109 : 0|0 |
0|0HG01123 : 0|0 |
0|0HG01175 : 0|0 |
0|0HG01243 : 0|0 |
0|0HG01258 : 0|0 |
0|0HG01358 : 0|0 |
0|0HG01361 : 0|0 |
0|0HG01891 : 0|0 |
0|0HG01928 : 0|0 |
0|0HG01952 : 0|0 |
0|0HG01978 : 0|0 |
0|0HG02055 : 0|0 |
0|0HG02080 : 0|0 |
0|0HG02109 : 0|0 |
0|1HG02145 : 0|1 |
0|0HG02148 : 0|0 |
0|0HG02257 : 0|0 |
1|0HG02486 : 1|0 |
0|0HG02559 : 0|0 |
0|0HG02572 : 0|0 |
0|0HG02622 : 0|0 |
0|0HG02630 : 0|0 |
0|0HG02717 : 0|0 |
0|0HG02723 : 0|0 |
0|0HG02818 : 0|0 |
0|1HG02886 : 0|1 |
0|0HG03098 : 0|0 |
0|0HG03453 : 0|0 |
0|0HG03486 : 0|0 |
0|0HG03492 : 0|0 |
0|0HG03516 : 0|0 |
0|0HG03540 : 0|0 |
1|0HG03579 : 1|0 |
0|0NA18906 : 0|0 |
0|0NA20129 : 0|0 |
0|0NA21309 : 0|0 |
|
1ACMG_class : 1 AnnotSV_ranking_score : -1.6 AnnotSV_ranking_criteria : 1B (cf Gene_count, RE_gene, -0.60): Does NOT contain protein-coding or any known functionally important elements. 2F/4O (cf B_loss_source, -1.00): Completely contained within an established benign CNV region. 2B (cf po_P_loss_source, HI and OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 3A (0 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 111 Gene_count : 0 |
fullAnnotation_mode : full |
.Gene_name : . LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . Closest_left : LINC02505 Closest_right : LINC02616 |
.Location : . CytoBand : p14 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv18792592; dbVar:nssv17969937 po_P_loss_coord : 4:11399083-38137335; 4:19891228-37323506 po_P_loss_percent : 0.00; 0.00 |
.P_snvindel_nb : . P_snvindel_phen : . |
CMRI:6_pbsv.DEL.996_duplicate2; HPRC:pbsv.DEL.3645B_loss_source : CMRI:6_pbsv.DEL.996_duplicate2; HPRC:pbsv.DEL.3645 B_loss_coord : 4:36650943-36651054; chr4:36650943-36651054 B_loss_AFmax : 0.2809 po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : chr4:36650943-36651054 HPRC:pbsv.DEL.3645; chr4:36650944-36651054 dbVar; po_B_loss_someG_coord : 4:36650943-36651054 CMRI:6_pbsv.DEL.996_duplicate2; 4:36650944-36651054 1000g; chr4:36650944-36651054 gnomAD-SV_v3_DEL_chr4_bcd3e7da |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 4:36650960-36651349 Repeat_type_left : L2a Gap_left : . GC_content_left : 0.365 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 4:36650960-36651349 Repeat_type_right : L2a Gap_right : . GC_content_right : 0.335 |
CHM13,HG00438,HG00621,HG00733,HG00741,HG01071[...]Samples_ID : CHM13,HG00438,HG00621,HG00733,HG00741,HG01071,HG01106,HG01109,HG01123,HG01175,HG01258,HG01358,HG01891,HG01928,HG02486,HG03453,HG03540,NA18906,NA20129 |
>18963811>18963814ID : >18963811>18963814 |
TAATATCTCCTCATTTGTTTATTTATTCAATAGTATTTATTTGGA[...]REF : TAATATCTCCTCATTTGTTTATTTATTCAATAGTATTTATTTGGAACATAGTAGCTGCCAGGCACTCTGCTAGCAAGTGAAATGCAATGGTTAACAACATATGTAGTTTCCC |
TALT : T |
60QUAL : 60 |
.FILTER : . |
AC=20; AF=0.224719; AN=89; AT=>18963811>[...]INFO : AC=20; AF=0.224719; AN=89; AT=>18963811>18963812>18963813>18963814,>18963811>18963814; LV=0; NS=45; e=36651054; s=111; rC=LINE/misc |
GTFORMAT : GT |
0CHM13 : 0 |
0|1HG00438 : 0|1 |
0|1HG00621 : 0|1 |
0|0HG00673 : 0|0 |
0|1HG00733 : 0|1 |
0|0HG00735 : 0|0 |
1|1HG00741 : 1|1 |
1|0HG01071 : 1|0 |
1|0HG01106 : 1|0 |
1|0HG01109 : 1|0 |
0|1HG01123 : 0|1 |
1|1HG01175 : 1|1 |
0|0HG01243 : 0|0 |
0|1HG01258 : 0|1 |
0|1HG01358 : 0|1 |
0|0HG01361 : 0|0 |
1|0HG01891 : 1|0 |
0|1HG01928 : 0|1 |
0|0HG01952 : 0|0 |
0|0HG01978 : 0|0 |
0|0HG02055 : 0|0 |
0|0HG02080 : 0|0 |
0|0HG02109 : 0|0 |
0|0HG02145 : 0|0 |
0|0HG02148 : 0|0 |
0|0HG02257 : 0|0 |
0|1HG02486 : 0|1 |
0|0HG02559 : 0|0 |
0|0HG02572 : 0|0 |
0|0HG02622 : 0|0 |
0|0HG02630 : 0|0 |
0|0HG02717 : 0|0 |
0|0HG02723 : 0|0 |
0|0HG02818 : 0|0 |
0|0HG02886 : 0|0 |
0|0HG03098 : 0|0 |
0|1HG03453 : 0|1 |
0|0HG03486 : 0|0 |
0|0HG03492 : 0|0 |
0|0HG03516 : 0|0 |
1|0HG03540 : 1|0 |
0|0HG03579 : 0|0 |
1|0NA18906 : 1|0 |
1|0NA20129 : 1|0 |
0|0NA21309 : 0|0 |
|
1ACMG_class : 1 AnnotSV_ranking_score : -1.6 AnnotSV_ranking_criteria : 1B (cf Gene_count, RE_gene, -0.60): Does NOT contain protein-coding or any known functionally important elements. 2F/4O (cf B_loss_source, -1.00): Completely contained within an established benign CNV region. 2B (cf po_P_loss_source, HI and OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 3A (0 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 436 Gene_count : 0 |
fullAnnotation_mode : full |
.Gene_name : . LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . Closest_left : LINC02497 Closest_right : LOC105374564 |
.Location : . CytoBand : p15.1 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15151369; dbVar:nssv18792592; dbVar:nssv15133724; dbVar:nssv17969937; dbVar:nssv17969939; dbVar:nssv16255589 po_P_loss_coord : 4:4163608-33323159; 4:11399083-38137335; 4:16925023-32113076; 4:19891228-37323506; 4:23788509-32300986; 4:28605525-32015844 po_P_loss_percent : 0.00; 0.00; 0.00; 0.00; 0.01; 0.01 |
.P_snvindel_nb : . P_snvindel_phen : . |
CMRI:0_pbsv.DEL.575_duplicate1; HPRC:pbsv.DEL[...]B_loss_source : CMRI:0_pbsv.DEL.575_duplicate1; HPRC:pbsv.DEL.3307; dbVar; gnomAD-SV_v3_DEL_chr4_6939d627; gnomAD-SV_v3_DEL_chr4_73359b76 B_loss_coord : chr4:22150396-36380550; chr4:31490930-31491680; 4:31491241-31491677; chr4:31491241-31491677; chr4:31491241-31491677 B_loss_AFmax : 0.8944 po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : chr4:31490930-31491680 gnomAD-SV_v3_DEL_chr4_73359b76; chr4:31491241-31491677 HPRC:pbsv.DEL.3307; 4:31491242-31491677 esv2670628; po_B_loss_someG_coord : chr4:22150396-36380550 gnomAD-SV_v3_DEL_chr4_6939d627; 4:31491241-31491677 CMRI:0_pbsv.DEL.575_duplicate1; chr4:31491241-31491677 dbVar; chr4:31491245-31491677 dbVar |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 4:31491242-31491682 Repeat_type_left : L1P1 Gap_left : . GC_content_left : 0.325 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 4:31491242-31491682; 4:31491701-31491936 Repeat_type_right : L1P1; Charlie7 Gap_right : . GC_content_right : 0.390 |
CHM13,HG00438,HG00621,HG00673,HG00733,HG00735[...]Samples_ID : CHM13,HG00438,HG00621,HG00673,HG00733,HG00735,HG00741,HG01071,HG01106,HG01109,HG01175,HG01243,HG01258,HG01358,HG01361,HG01891,HG01952,HG02055,HG02080,HG02109,HG02145,HG02257,HG02486,HG02559,HG02572,HG02622,HG02630,HG02717,HG02723,HG02818,HG02886,HG03098,HG03453,HG03486,HG03492,HG03516,HG03540,HG03579,NA18906,NA20129,NA21309 |
>18825686>18825688ID : >18825686>18825688 |
ATTTCGGACATGAAGTCCTTGCCCACGCCTATGTCCTGAATGGTA[...]REF : ATTTCGGACATGAAGTCCTTGCCCACGCCTATGTCCTGAATGGTAATGCCTAGGTTTTCTTCTAGGGTTTTTATGGTTTTAGGTTTAACGTTTAAATCTTTAATCCATCTTGAATTGATTTTTGTATAAGGTGTAAGGAAGGGATCCAGTTTCAGCTTTCTACATATGGCTAGCCAGTTTTCCCAGCACCATTTATTAAATAGGGAATCCTTTCCCCATTGCTTGTTTTTCTCAGGTTTGTCAAAGATCAGATAGTTGTAGATATGCGGCATTATTTCTGAGGGCTCTGTTCTGTTCCATTGATCTATATCTCTGTTTTGGCACCAGTACCATGCTGTTTTGGTTACTGTAGCCTTGTAGTATAGTTTGAAGTCAGGTAGTGTGATGCCTCCAGCTTTGTTCTTTTGGCTTAGGATTGACTTGGCAATGCGGGCTCT |
AALT : A |
60QUAL : 60 |
.FILTER : . |
AC=72; AF=0.808989; AN=89; AT=>18825686>[...]INFO : AC=72; AF=0.808989; AN=89; AT=>18825686>18825687>18825688,>18825686>18825688; LV=0; NS=45; e=31491677; s=436; rC=LINE/L1 |
GTFORMAT : GT |
1CHM13 : 1 |
0|1HG00438 : 0|1 |
1|1HG00621 : 1|1 |
1|1HG00673 : 1|1 |
1|0HG00733 : 1|0 |
1|1HG00735 : 1|1 |
1|1HG00741 : 1|1 |
0|1HG01071 : 0|1 |
1|1HG01106 : 1|1 |
1|1HG01109 : 1|1 |
0|0HG01123 : 0|0 |
0|1HG01175 : 0|1 |
1|1HG01243 : 1|1 |
1|0HG01258 : 1|0 |
1|1HG01358 : 1|1 |
1|1HG01361 : 1|1 |
1|1HG01891 : 1|1 |
0|0HG01928 : 0|0 |
0|1HG01952 : 0|1 |
0|0HG01978 : 0|0 |
1|1HG02055 : 1|1 |
1|1HG02080 : 1|1 |
1|1HG02109 : 1|1 |
1|1HG02145 : 1|1 |
0|0HG02148 : 0|0 |
1|1HG02257 : 1|1 |
1|1HG02486 : 1|1 |
0|1HG02559 : 0|1 |
1|1HG02572 : 1|1 |
1|1HG02622 : 1|1 |
1|1HG02630 : 1|1 |
1|1HG02717 : 1|1 |
1|1HG02723 : 1|1 |
1|1HG02818 : 1|1 |
1|1HG02886 : 1|1 |
1|1HG03098 : 1|1 |
1|1HG03453 : 1|1 |
0|1HG03486 : 0|1 |
1|1HG03492 : 1|1 |
1|1HG03516 : 1|1 |
1|1HG03540 : 1|1 |
1|1HG03579 : 1|1 |
1|1NA18906 : 1|1 |
1|0NA20129 : 1|0 |
1|1NA21309 : 1|1 |
|
1ACMG_class : 1 AnnotSV_ranking_score : -1.6 AnnotSV_ranking_criteria : 1B (cf Gene_count, RE_gene, -0.60): Does NOT contain protein-coding or any known functionally important elements. 2F/4O (cf B_loss_source, -1.00): Completely contained within an established benign CNV region. 2B (cf po_P_loss_source, HI and OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 3A (0 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 343 Gene_count : 0 |
fullAnnotation_mode : full |
.Gene_name : . LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . Closest_left : LOC124905439 Closest_right : LOC100507443 |
.Location : . CytoBand : q33.3 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15124851; dbVar:nssv17976941; dbVar:nssv18330068; dbVar:nssv15145974; dbVar:nssv15148999; dbVar:nssv15148911; dbVar:nssv17969803; dbVar:nssv16253926; dbVar:nssv15137579; dbVar:nssv15136737 po_P_loss_coord : 2:50659295-242160331; 2:184832933-212137349; 2:189045179-208603658; 2:192938827-215705052; 2:199937274-210031924; 2:199946495-209985195; 2:199986357-208189543; 2:203580897-211716063; 2:204906844-210031449; 2:207058887-211245603 po_P_loss_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.01; 0.01 |
.P_snvindel_nb : . P_snvindel_phen : . |
gnomAD-SV_v3_DEL_chr2_d8522047B_loss_source : gnomAD-SV_v3_DEL_chr2_d8522047 B_loss_coord : chr2:148424217-233186659 B_loss_AFmax : 0.0146 po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : 2:208094383-208094726 CMRI:0_pbsv.DEL.2479_duplicate1; chr2:208094383-208094726 dbVar; chr2:208094384-208094726 dbVar; po_B_loss_someG_coord : chr2:148424217-233186659 gnomAD-SV_v3_DEL_chr2_d8522047; chr2:208094383-208094726 HPRC:pbsv.DEL.13765; 2:208094384-208094726 1000g; chr2:208094399-208094726 gnomAD-SV_v3_DEL_chr2_1c4a5e65 |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 2:208094085-208094383; 2:208094384-208094394; 2:208094395-208094729 Repeat_type_left : AluY; AluJr4; AluYb8 Gap_left : . GC_content_left : 0.485 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 2:208094395-208094729; 2:208094730-208094868 Repeat_type_right : AluYb8; AluJr4 Gap_right : . GC_content_right : 0.550 |
CHM13,HG00438,HG00621,HG00673,HG00733,HG00735[...]Samples_ID : CHM13,HG00438,HG00621,HG00673,HG00733,HG00735,HG00741,HG01071,HG01106,HG01109,HG01123,HG01175,HG01243,HG01258,HG01358,HG01361,HG01891,HG01928,HG01952,HG01978,HG02055,HG02080,HG02109,HG02145,HG02148,HG02257,HG02486,HG02559,HG02572,HG02622,HG02630,HG02717,HG02723,HG02818,HG02886,HG03098,HG03453,HG03486,HG03492,HG03516,HG03540,HG03579,NA18906,NA20129,NA21309 |
>11515909>11515911ID : >11515909>11515911 |
AACTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[...]REF : AACTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGGCGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCTGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCCAGTTA |
AALT : A |
60QUAL : 60 |
.FILTER : . |
AC=89; AF=1; AN=89; AT=>11515909>115159[...]INFO : AC=89; AF=1; AN=89; AT=>11515909>11515910>11515911,>11515909>11515911; LV=0; NS=45; e=208094735; s=343; rC=SINE/Alu |
GTFORMAT : GT |
1CHM13 : 1 |
1|1HG00438 : 1|1 |
1|1HG00621 : 1|1 |
1|1HG00673 : 1|1 |
1|1HG00733 : 1|1 |
1|1HG00735 : 1|1 |
1|1HG00741 : 1|1 |
1|1HG01071 : 1|1 |
1|1HG01106 : 1|1 |
1|1HG01109 : 1|1 |
1|1HG01123 : 1|1 |
1|1HG01175 : 1|1 |
1|1HG01243 : 1|1 |
1|1HG01258 : 1|1 |
1|1HG01358 : 1|1 |
1|1HG01361 : 1|1 |
1|1HG01891 : 1|1 |
1|1HG01928 : 1|1 |
1|1HG01952 : 1|1 |
1|1HG01978 : 1|1 |
1|1HG02055 : 1|1 |
1|1HG02080 : 1|1 |
1|1HG02109 : 1|1 |
1|1HG02145 : 1|1 |
1|1HG02148 : 1|1 |
1|1HG02257 : 1|1 |
1|1HG02486 : 1|1 |
1|1HG02559 : 1|1 |
1|1HG02572 : 1|1 |
1|1HG02622 : 1|1 |
1|1HG02630 : 1|1 |
1|1HG02717 : 1|1 |
1|1HG02723 : 1|1 |
1|1HG02818 : 1|1 |
1|1HG02886 : 1|1 |
1|1HG03098 : 1|1 |
1|1HG03453 : 1|1 |
1|1HG03486 : 1|1 |
1|1HG03492 : 1|1 |
1|1HG03516 : 1|1 |
1|1HG03540 : 1|1 |
1|1HG03579 : 1|1 |
1|1NA18906 : 1|1 |
1|1NA20129 : 1|1 |
1|1NA21309 : 1|1 |
|
1ACMG_class : 1 AnnotSV_ranking_score : -1.6 AnnotSV_ranking_criteria : 1B (cf Gene_count, RE_gene, -0.60): Does NOT contain protein-coding or any known functionally important elements. 2F/4O (cf B_loss_source, -1.00): Completely contained within an established benign CNV region. 2B (cf po_P_loss_source, HI and OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 3A (0 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 136 Gene_count : 0 |
fullAnnotation_mode : full |
.Gene_name : . LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . Closest_left : LOC107985959 Closest_right : LOC105373734 |
.Location : . CytoBand : q24.3 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15124851; dbVar:nssv15152071; dbVar:nssv17976622; dbVar:nssv16296942; dbVar:nssv15128015; dbVar:nssv15134479; dbVar:nssv15131792; dbVar:nssv15153055; dbVar:nssv15132374; dbVar:nssv15151176; dbVar:nssv15130596; dbVar:nssv15775914; dbVar:nssv8639751 po_P_loss_coord : 2:50659295-242160331; 2:157114263-168414165; 2:159491132-173211123; 2:162221546-181254890; 2:163652983-169424906; 2:163965383-182195062; 2:164066039-172097886; 2:164317111-168922816; 2:164850118-175559190; 2:165518446-168814693; 2:166427539-174521682; 2:166473077-191891647; 2:167140209-169815376 po_P_loss_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.01 |
.P_snvindel_nb : . P_snvindel_phen : . |
CMRI:8_pbsv.DEL.2605; gnomAD-SV_v3_DEL_chr2_d[...]B_loss_source : CMRI:8_pbsv.DEL.2605; gnomAD-SV_v3_DEL_chr2_d8522047 B_loss_coord : chr2:148424217-233186659; 2:168334178-168334314 B_loss_AFmax : 0.0279 po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : 2:168334178-168334314 CMRI:8_pbsv.DEL.2605; chr2:168334194-168334314 gnomAD-SV_v3_DEL_chr2_dce0d9fc po_B_loss_someG_coord : chr2:148424217-233186659 gnomAD-SV_v3_DEL_chr2_d8522047; chr2:168334194-168334296 dbVar |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 2:168334052-168334349 Repeat_type_left : AluSx Gap_left : . GC_content_left : 0.510 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 2:168334052-168334349; 2:168334350-168334592 Repeat_type_right : AluSx; L1MA4A Gap_right : . GC_content_right : 0.445 |
CHM13,HG00741,HG02080Samples_ID : CHM13,HG00741,HG02080 |
>10666648>10666650ID : >10666648>10666650 |
AGCTGGGATTACAGGTGCGTGCCACTACACTCAGCTAATTTTTTG[...]REF : AGCTGGGATTACAGGTGCGTGCCACTACACTCAGCTAATTTTTTGTATTTTTAGTAGAGATGTGGTTTCACCATGTTGGCCTGGCTGTTCTCGAACTCCTGACATCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGT |
AALT : A |
60QUAL : 60 |
.FILTER : . |
AC=2; AF=0.0224719; AN=89; AT=>10666648>[...]INFO : AC=2; AF=0.0224719; AN=89; AT=>10666648>10666649>10666650,>10666648>10666650; LV=0; NS=45; e=168334314; s=136; rC=SINE/Alu |
GTFORMAT : GT |
0CHM13 : 0 |
0|0HG00438 : 0|0 |
0|0HG00621 : 0|0 |
0|0HG00673 : 0|0 |
0|0HG00733 : 0|0 |
0|0HG00735 : 0|0 |
1|0HG00741 : 1|0 |
0|0HG01071 : 0|0 |
0|0HG01106 : 0|0 |
0|0HG01109 : 0|0 |
0|0HG01123 : 0|0 |
0|0HG01175 : 0|0 |
0|0HG01243 : 0|0 |
0|0HG01258 : 0|0 |
0|0HG01358 : 0|0 |
0|0HG01361 : 0|0 |
0|0HG01891 : 0|0 |
0|0HG01928 : 0|0 |
0|0HG01952 : 0|0 |
0|0HG01978 : 0|0 |
0|0HG02055 : 0|0 |
1|0HG02080 : 1|0 |
0|0HG02109 : 0|0 |
0|0HG02145 : 0|0 |
0|0HG02148 : 0|0 |
0|0HG02257 : 0|0 |
0|0HG02486 : 0|0 |
0|0HG02559 : 0|0 |
0|0HG02572 : 0|0 |
0|0HG02622 : 0|0 |
0|0HG02630 : 0|0 |
0|0HG02717 : 0|0 |
0|0HG02723 : 0|0 |
0|0HG02818 : 0|0 |
0|0HG02886 : 0|0 |
0|0HG03098 : 0|0 |
0|0HG03453 : 0|0 |
0|0HG03486 : 0|0 |
0|0HG03492 : 0|0 |
0|0HG03516 : 0|0 |
0|0HG03540 : 0|0 |
0|0HG03579 : 0|0 |
0|0NA18906 : 0|0 |
0|0NA20129 : 0|0 |
0|0NA21309 : 0|0 |
|
1ACMG_class : 1 AnnotSV_ranking_score : -1.6 AnnotSV_ranking_criteria : 1B (cf Gene_count, RE_gene, -0.60): Does NOT contain protein-coding or any known functionally important elements. 2F/4O (cf B_loss_source, -1.00): Completely contained within an established benign CNV region. 2B (cf po_P_loss_source, HI and OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 3A (0 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 176 Gene_count : 0 |
fullAnnotation_mode : full |
.Gene_name : . LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . Closest_left : LOC124904732 Closest_right : LOC107984966 |
.Location : . CytoBand : p31.3 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv16296937; dbVar:nssv15146568; dbVar:nssv15147256; dbVar:nssv15146712; dbVar:nssv15774159; dbVar:nssv15147194; dbVar:nssv15146618; dbVar:nssv15146185; dbVar:nssv15151300; dbVar:nssv18790561; dbVar:nssv15143555 po_P_loss_coord : 1:53210036-66179280; 1:57350575-71325924; 1:58819606-69107108; 1:58819606-86098611; 1:59456960-71592970; 1:59632501-76730877; 1:59760857-71578052; 1:60473801-70944955; 1:60885353-79118248; 1:61082793-67396089; 1:63855594-87687986 po_P_loss_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00 |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVar; gnomAD-SV_v3_DEL_chr1_cf5f2df8B_loss_source : dbVar; gnomAD-SV_v3_DEL_chr1_cf5f2df8 B_loss_coord : chr1:13203398-167621949; chr1:64386395-64441436 B_loss_AFmax : 0.1676 po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : chr1:64386395-64441436 dbVar; po_B_loss_someG_coord : chr1:13203398-167621949 gnomAD-SV_v3_DEL_chr1_cf5f2df8; chr1:64415645-64415821 HPRC:pbsv.DEL.5818 |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 1:64415282-64416345 Repeat_type_left : SVA_D Gap_left : . GC_content_left : 0.790 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 1:64415282-64416345 Repeat_type_right : SVA_D Gap_right : . GC_content_right : 0.790 |
CHM13,HG00438,HG00621,HG00673,HG00733,HG00735[...]Samples_ID : CHM13,HG00438,HG00621,HG00673,HG00733,HG00735,HG00741,HG01071,HG01106,HG01109,HG01123,HG01175,HG01243,HG01258,HG01358,HG01361,HG01891,HG01928,HG01952,HG01978,HG02055,HG02080,HG02109,HG02145,HG02148,HG02257,HG02486,HG02559,HG02572,HG02622,HG02630,HG02717,HG02723,HG02818,HG02886,HG03098,HG03453,HG03486,HG03492,HG03516,HG03540,HG03579,NA18906,NA20129,NA21309 |
>2419159>2419157ID : >2419159>2419157 |
CGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGTCCCC[...]REF : CGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGTCCCCCACCCGGCCAGCCGCCCTGTCCGGGAGGGAGGTTGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGTAAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCC |
CALT : C |
60QUAL : 60 |
.FILTER : . |
AC=89; AF=1; AN=89; AT=>2419159>2419158[...]INFO : AC=89; AF=1; AN=89; AT=>2419159>2419158>2419157,>2419159>2419157; LV=0; NS=45; e=64415869; s=176; rC=Retroposon/SVA |
GTFORMAT : GT |
1CHM13 : 1 |
1|1HG00438 : 1|1 |
1|1HG00621 : 1|1 |
1|1HG00673 : 1|1 |
1|1HG00733 : 1|1 |
1|1HG00735 : 1|1 |
1|1HG00741 : 1|1 |
1|1HG01071 : 1|1 |
1|1HG01106 : 1|1 |
1|1HG01109 : 1|1 |
1|1HG01123 : 1|1 |
1|1HG01175 : 1|1 |
1|1HG01243 : 1|1 |
1|1HG01258 : 1|1 |
1|1HG01358 : 1|1 |
1|1HG01361 : 1|1 |
1|1HG01891 : 1|1 |
1|1HG01928 : 1|1 |
1|1HG01952 : 1|1 |
1|1HG01978 : 1|1 |
1|1HG02055 : 1|1 |
1|1HG02080 : 1|1 |
1|1HG02109 : 1|1 |
1|1HG02145 : 1|1 |
1|1HG02148 : 1|1 |
1|1HG02257 : 1|1 |
1|1HG02486 : 1|1 |
1|1HG02559 : 1|1 |
1|1HG02572 : 1|1 |
1|1HG02622 : 1|1 |
1|1HG02630 : 1|1 |
1|1HG02717 : 1|1 |
1|1HG02723 : 1|1 |
1|1HG02818 : 1|1 |
1|1HG02886 : 1|1 |
1|1HG03098 : 1|1 |
1|1HG03453 : 1|1 |
1|1HG03486 : 1|1 |
1|1HG03492 : 1|1 |
1|1HG03516 : 1|1 |
1|1HG03540 : 1|1 |
1|1HG03579 : 1|1 |
1|1NA18906 : 1|1 |
1|1NA20129 : 1|1 |
1|1NA21309 : 1|1 |
|
NAACMG_class : NA AnnotSV_ranking_score : . AnnotSV_ranking_criteria : . |
INSSV_type : INS SV_length : 280 Gene_count : 2 |
fullAnnotation_mode : full |
PAXBP1-AS1; PAXBP1; [...2genes]Gene_name : PAXBP1-AS1; PAXBP1; LOEUF_bin : 0 GnomAD_pLI : 9.9999e-01 ExAC_pLI : 9.9997e-01 HI : . TS : . DDD_HI_percent : 28.33 ExAC_cnvZ : 0.0902107819488936 ExAC_delZ : 0.715741625332419 ExAC_dupZ : -0.279836001852529 ExAC_synZ : 0.978514752153031 ExAC_misZ : 2.86811944053941 Closest_left : LOC124905011 Closest_right : LOC124905010 |
.Location : . CytoBand : q22.11 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_gain_phen : . po_P_gain_hpo : . po_P_gain_source : dbVar:nssv15147949; dbVar:nssv15145786; nssv15145787; nssv15145788; dbVar:nssv15147265; dbVar:nssv15147268; dbVar:nssv15146446; dbVar:nssv15147289; dbVar:nssv15145792; dbVar:nssv15147273; dbVar:nssv15145950; nssv15147280; dbVar:nssv15145650; nssv15145793; nssv15145794; nssv15146803; dbVar:nssv15146648; nssv15147989; dbVar:nssv15145903; nssv15147362; nssv15147367; nssv15148853; dbVar:nssv15146752; nssv15148994; nssv15149002; dbVar:nssv15145977; dbVar:nssv17955538; dbVar:nssv15163276; dbVar:nssv15161153; dbVar:nssv15161150; nssv15162844; dbVar:nssv17977065; dbVar:nssv16254725; dbVar:nssv15149644; dbVar:nssv15777259; nssv17956911; nssv17969259; dbVar:nssv15150236; dbVar:nssv17969260; dbVar:nssv17969261; dbVar:nssv15147703; dbVar:nssv15129056; dbVar:nssv15125441; dbVar:nssv17969265; dbVar:nssv15163299; dbVar:nssv15155613 po_P_gain_coord : 21:7749533-42971047; 21:7749533-46623792; 21:7749533-46649831; 21:7749533-46653084; 21:7749533-46653090; 21:7749533-46660999; 21:7749533-46661140; 21:7749533-46664250; 21:7749533-46670346; 21:7749533-46670405; 21:7749533-46670440; 21:7749533-46671060; 21:7749533-46677460; 21:7749533-46698247; 21:8522362-46699983; 21:12965810-46670717; 21:12965810-46680243; 21:12965810-46697984; 21:13048295-46661014; 21:13256743-46670405; 21:13399450-46660955; 21:13634137-46677460; 21:13634138-46677460; 21:13668889-46677460; 21:13913521-46677460; 21:14038381-46670405; 21:14158050-46699983; 21:14158109-46699983; 21:28439713-37910551; 21:28842551-33524655; 21:32607904-41171060 po_P_gain_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00 po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15136031; dbVar:nssv15148957; dbVar:nssv15146956; dbVar:nssv15137471; dbVar:nssv16209005; dbVar:nssv15124432; dbVar:nssv15605918; dbVar:nssv16215100; dbVar:nssv17976289 po_P_loss_coord : 21:7749533-37653653; 21:7817159-46670440; 21:14166335-46661014; 21:28508148-34690032; 21:30339599-33260168; 21:31206325-33687787; 21:31217588-33987634; 21:31832753-34666723; 21:32213459-34373118 po_P_loss_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00 |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_gain_source : dbVar B_gain_coord : chr21:32675352-32751209 B_gain_AFmax : 0.01 B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_gain_allG_source : . po_B_gain_allG_coord : . po_B_gain_someG_source : . po_B_gain_someG_coord : chr21:32675352-32751209 dbVar po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 21:32738491-32738560 Repeat_type_left : MER3 Gap_left : . GC_content_left : 0.280 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 21:32738491-32738560 Repeat_type_right : MER3 Gap_right : . GC_content_right : 0.280 |
CHM13Samples_ID : CHM13 |
>75660143>75660145ID : >75660143>75660145 |
AREF : A |
AAATACAGCAGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAG[...]ALT : AAATACAGCAGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAGA |
60QUAL : 60 |
.FILTER : . |
AC=1; AF=0.011236; AN=89; AT=>75660143>[...]INFO : AC=1; AF=0.011236; AN=89; AT=>75660143>75660145,>75660143>75660144>75660145; LV=0; NS=45; e=32738403; s=280; rC=SINE/Alu |
GTFORMAT : GT |
1CHM13 : 1 |
0|0HG00438 : 0|0 |
0|0HG00621 : 0|0 |
0|0HG00673 : 0|0 |
0|0HG00733 : 0|0 |
0|0HG00735 : 0|0 |
0|0HG00741 : 0|0 |
0|0HG01071 : 0|0 |
0|0HG01106 : 0|0 |
0|0HG01109 : 0|0 |
0|0HG01123 : 0|0 |
0|0HG01175 : 0|0 |
0|0HG01243 : 0|0 |
0|0HG01258 : 0|0 |
0|0HG01358 : 0|0 |
0|0HG01361 : 0|0 |
0|0HG01891 : 0|0 |
0|0HG01928 : 0|0 |
0|0HG01952 : 0|0 |
0|0HG01978 : 0|0 |
0|0HG02055 : 0|0 |
0|0HG02080 : 0|0 |
0|0HG02109 : 0|0 |
0|0HG02145 : 0|0 |
0|0HG02148 : 0|0 |
0|0HG02257 : 0|0 |
0|0HG02486 : 0|0 |
0|0HG02559 : 0|0 |
0|0HG02572 : 0|0 |
0|0HG02622 : 0|0 |
0|0HG02630 : 0|0 |
0|0HG02717 : 0|0 |
0|0HG02723 : 0|0 |
0|0HG02818 : 0|0 |
0|0HG02886 : 0|0 |
0|0HG03098 : 0|0 |
0|0HG03453 : 0|0 |
0|0HG03486 : 0|0 |
0|0HG03492 : 0|0 |
0|0HG03516 : 0|0 |
0|0HG03540 : 0|0 |
0|0HG03579 : 0|0 |
0|0NA18906 : 0|0 |
0|0NA20129 : 0|0 |
0|0NA21309 : 0|0 |
|
full=NAACMG_class : full=NA |
INSSV_type : INS SV_length : 280 |
splitAnnotation_mode : split |
PAXBP1Gene_name : PAXBP1; LOEUF_bin : 0 GnomAD_pLI : 9.9999e-01 ExAC_pLI : 9.9997e-01 HI : . TS : . DDD_HI_percent : 28.33 ACMG : . ExAC_cnvZ : 0.0902107819488936 ExAC_delZ : 0.715741625332419 ExAC_dupZ : -0.279836001852529 ExAC_synZ : 0.978514752153031 ExAC_misZ : 2.86811944053941 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 94104 |
intron15-intron15Location : intron15-intron15 CytoBand : q22.11 Location2 : CDS Tx : NM_016631 Tx_version : 4 Tx_start : 32733898 Tx_end : 32771755 Exon_count : 18 Overlapped_tx_length : 1 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 83 Nearest_SS_type : 3' Intersect_start : 32738402 Intersect_end : 32738403 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_gain_source : dbVar B_gain_coord : chr21:32675352-32751209 B_gain_AFmax : 0.01 B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
CHM13Samples_ID : CHM13 |
>75660143>75660145ID : >75660143>75660145 |
AREF : A |
AAATACAGCAGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAG[...]ALT : AAATACAGCAGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAGA |
60QUAL : 60 |
.FILTER : . |
AC=1; AF=0.011236; AN=89; AT=>75660143>[...]INFO : AC=1; AF=0.011236; AN=89; AT=>75660143>75660145,>75660143>75660144>75660145; LV=0; NS=45; e=32738403; s=280; rC=SINE/Alu |
GTFORMAT : GT |
1CHM13 : 1 |
0|0HG00438 : 0|0 |
0|0HG00621 : 0|0 |
0|0HG00673 : 0|0 |
0|0HG00733 : 0|0 |
0|0HG00735 : 0|0 |
0|0HG00741 : 0|0 |
0|0HG01071 : 0|0 |
0|0HG01106 : 0|0 |
0|0HG01109 : 0|0 |
0|0HG01123 : 0|0 |
0|0HG01175 : 0|0 |
0|0HG01243 : 0|0 |
0|0HG01258 : 0|0 |
0|0HG01358 : 0|0 |
0|0HG01361 : 0|0 |
0|0HG01891 : 0|0 |
0|0HG01928 : 0|0 |
0|0HG01952 : 0|0 |
0|0HG01978 : 0|0 |
0|0HG02055 : 0|0 |
0|0HG02080 : 0|0 |
0|0HG02109 : 0|0 |
0|0HG02145 : 0|0 |
0|0HG02148 : 0|0 |
0|0HG02257 : 0|0 |
0|0HG02486 : 0|0 |
0|0HG02559 : 0|0 |
0|0HG02572 : 0|0 |
0|0HG02622 : 0|0 |
0|0HG02630 : 0|0 |
0|0HG02717 : 0|0 |
0|0HG02723 : 0|0 |
0|0HG02818 : 0|0 |
0|0HG02886 : 0|0 |
0|0HG03098 : 0|0 |
0|0HG03453 : 0|0 |
0|0HG03486 : 0|0 |
0|0HG03492 : 0|0 |
0|0HG03516 : 0|0 |
0|0HG03540 : 0|0 |
0|0HG03579 : 0|0 |
0|0NA18906 : 0|0 |
0|0NA20129 : 0|0 |
0|0NA21309 : 0|0 |
|
full=NAACMG_class : full=NA |
INSSV_type : INS SV_length : 280 |
splitAnnotation_mode : split |
PAXBP1-AS1Gene_name : PAXBP1-AS1; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 100506215 |
intron3-intron3Location : intron3-intron3 CytoBand : q22.11 Location2 : UTR Tx : NR_038879 Tx_version : 1 Tx_start : 32728113 Tx_end : 32743122 Exon_count : 4 Overlapped_tx_length : 1 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 61 Nearest_SS_type : 5' Intersect_start : 32738402 Intersect_end : 32738403 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_gain_source : dbVar B_gain_coord : chr21:32675352-32751209 B_gain_AFmax : 0.01 B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
CHM13Samples_ID : CHM13 |
>75660143>75660145ID : >75660143>75660145 |
AREF : A |
AAATACAGCAGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAG[...]ALT : AAATACAGCAGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAGA |
60QUAL : 60 |
.FILTER : . |
AC=1; AF=0.011236; AN=89; AT=>75660143>[...]INFO : AC=1; AF=0.011236; AN=89; AT=>75660143>75660145,>75660143>75660144>75660145; LV=0; NS=45; e=32738403; s=280; rC=SINE/Alu |
GTFORMAT : GT |
1CHM13 : 1 |
0|0HG00438 : 0|0 |
0|0HG00621 : 0|0 |
0|0HG00673 : 0|0 |
0|0HG00733 : 0|0 |
0|0HG00735 : 0|0 |
0|0HG00741 : 0|0 |
0|0HG01071 : 0|0 |
0|0HG01106 : 0|0 |
0|0HG01109 : 0|0 |
0|0HG01123 : 0|0 |
0|0HG01175 : 0|0 |
0|0HG01243 : 0|0 |
0|0HG01258 : 0|0 |
0|0HG01358 : 0|0 |
0|0HG01361 : 0|0 |
0|0HG01891 : 0|0 |
0|0HG01928 : 0|0 |
0|0HG01952 : 0|0 |
0|0HG01978 : 0|0 |
0|0HG02055 : 0|0 |
0|0HG02080 : 0|0 |
0|0HG02109 : 0|0 |
0|0HG02145 : 0|0 |
0|0HG02148 : 0|0 |
0|0HG02257 : 0|0 |
0|0HG02486 : 0|0 |
0|0HG02559 : 0|0 |
0|0HG02572 : 0|0 |
0|0HG02622 : 0|0 |
0|0HG02630 : 0|0 |
0|0HG02717 : 0|0 |
0|0HG02723 : 0|0 |
0|0HG02818 : 0|0 |
0|0HG02886 : 0|0 |
0|0HG03098 : 0|0 |
0|0HG03453 : 0|0 |
0|0HG03486 : 0|0 |
0|0HG03492 : 0|0 |
0|0HG03516 : 0|0 |
0|0HG03540 : 0|0 |
0|0HG03579 : 0|0 |
0|0NA18906 : 0|0 |
0|0NA20129 : 0|0 |
0|0NA21309 : 0|0 |
|
NAACMG_class : NA AnnotSV_ranking_score : . AnnotSV_ranking_criteria : . |
INSSV_type : INS SV_length : 309 Gene_count : 2 |
fullAnnotation_mode : full |
TMTC1; LOC105369714; [...2genes]Gene_name : TMTC1; LOC105369714; LOEUF_bin : 3 GnomAD_pLI : 1.3290e-09 ExAC_pLI : 3.0649e-07 HI : . TS : . DDD_HI_percent : 43.75 ExAC_cnvZ : 0.699442783758243 ExAC_delZ : 0.571504801232638 ExAC_dupZ : 0.596669492959968 ExAC_synZ : -0.496348186379445 ExAC_misZ : 0.506606646315171 Closest_left : OVCH1 Closest_right : LOC124902909 |
.Location : . CytoBand : p11.22 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_gain_phen : . po_P_gain_hpo : . po_P_gain_source : dbVar:nssv15129039; dbVar:nssv15161620; dbVar:nssv15149123; nssv15149133; dbVar:nssv15147501; dbVar:nssv15772258; dbVar:nssv15146010; nssv15154626; nssv15155403; nssv17969493; dbVar:nssv15152338; dbVar:nssv17969494; dbVar:nssv15161414; nssv15161422; dbVar:nssv18792642; dbVar:nssv15146543; dbVar:nssv15147863; dbVar:nssv15171852; dbVar:nssv15171851; dbVar:nssv15146700; dbVar:nssv15161798; dbVar:nssv15145922; dbVar:nssv16208328; dbVar:nssv15146481; dbVar:nssv15150645; dbVar:nssv15171855; dbVar:nssv15150719; dbVar:nssv15150741 po_P_gain_coord : 12:43335-37470675; 12:45741-133265309; 12:45741-34025864; 12:54428-34608071; 12:64621-34343693; 12:64621-34682902; 12:64621-37475305; 12:64621-37475499; 12:64622-133201316; 12:66882-34026917; 12:77188-34380176; 12:80413-34603215; 12:82454-133201059; 12:82454-31580110; 12:121256-34603274; 12:121272-133196807; 12:121272-34603261; 12:165511-37475499; 12:212977-33926913; 12:456204-34682902; 12:512055-133202532; 12:28970468-40562384; 12:29426098-34682902 po_P_gain_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00 po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15131918 po_P_loss_coord : 12:25263834-34064528 po_P_loss_percent : 0.00 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_gain_allG_source : . po_B_gain_allG_coord : . po_B_gain_someG_source : . po_B_gain_someG_coord : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : . Repeat_type_left : . Gap_left : . GC_content_left : 0.330 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : . Repeat_type_right : . Gap_right : . GC_content_right : 0.335 |
CHM13,HG01978Samples_ID : CHM13,HG01978 |
>52932807>52932809ID : >52932807>52932809 |
TREF : T |
TAAAAATCAGTCCTTGGCTCACGCCTGTAATCCCAGCACTTTGGG[...]ALT : TAAAAATCAGTCCTTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAA |
60QUAL : 60 |
.FILTER : . |
AC=1; AF=0.011236; AN=89; AT=>52932807>[...]INFO : AC=1; AF=0.011236; AN=89; AT=>52932807>52932809,>52932807>52932808>52932809; LV=0; NS=45; e=29539309; s=309; rC=SINE/Alu |
GTFORMAT : GT |
0CHM13 : 0 |
0|0HG00438 : 0|0 |
0|0HG00621 : 0|0 |
0|0HG00673 : 0|0 |
0|0HG00733 : 0|0 |
0|0HG00735 : 0|0 |
0|0HG00741 : 0|0 |
0|0HG01071 : 0|0 |
0|0HG01106 : 0|0 |
0|0HG01109 : 0|0 |
0|0HG01123 : 0|0 |
0|0HG01175 : 0|0 |
0|0HG01243 : 0|0 |
0|0HG01258 : 0|0 |
0|0HG01358 : 0|0 |
0|0HG01361 : 0|0 |
0|0HG01891 : 0|0 |
0|0HG01928 : 0|0 |
0|0HG01952 : 0|0 |
0|1HG01978 : 0|1 |
0|0HG02055 : 0|0 |
0|0HG02080 : 0|0 |
0|0HG02109 : 0|0 |
0|0HG02145 : 0|0 |
0|0HG02148 : 0|0 |
0|0HG02257 : 0|0 |
0|0HG02486 : 0|0 |
0|0HG02559 : 0|0 |
0|0HG02572 : 0|0 |
0|0HG02622 : 0|0 |
0|0HG02630 : 0|0 |
0|0HG02717 : 0|0 |
0|0HG02723 : 0|0 |
0|0HG02818 : 0|0 |
0|0HG02886 : 0|0 |
0|0HG03098 : 0|0 |
0|0HG03453 : 0|0 |
0|0HG03486 : 0|0 |
0|0HG03492 : 0|0 |
0|0HG03516 : 0|0 |
0|0HG03540 : 0|0 |
0|0HG03579 : 0|0 |
0|0NA18906 : 0|0 |
0|0NA20129 : 0|0 |
0|0NA21309 : 0|0 |
|
full=NAACMG_class : full=NA |
INSSV_type : INS SV_length : 309 |
splitAnnotation_mode : split |
TMTC1Gene_name : TMTC1; LOEUF_bin : 3 GnomAD_pLI : 1.3290e-09 ExAC_pLI : 3.0649e-07 HI : . TS : . DDD_HI_percent : 43.75 ACMG : . ExAC_cnvZ : 0.699442783758243 ExAC_delZ : 0.571504801232638 ExAC_dupZ : 0.596669492959968 ExAC_synZ : -0.496348186379445 ExAC_misZ : 0.506606646315171 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 83857 |
intron8-intron8Location : intron8-intron8 CytoBand : p11.22 Location2 : CDS Tx : XM_017020007 Tx_version : 3 Tx_start : 29500812 Tx_end : 29661402 Exon_count : 16 Overlapped_tx_length : 1 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 2991 Nearest_SS_type : 3' Intersect_start : 29539308 Intersect_end : 29539309 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
CHM13,HG01978Samples_ID : CHM13,HG01978 |
>52932807>52932809ID : >52932807>52932809 |
TREF : T |
TAAAAATCAGTCCTTGGCTCACGCCTGTAATCCCAGCACTTTGGG[...]ALT : TAAAAATCAGTCCTTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAA |
60QUAL : 60 |
.FILTER : . |
AC=1; AF=0.011236; AN=89; AT=>52932807>[...]INFO : AC=1; AF=0.011236; AN=89; AT=>52932807>52932809,>52932807>52932808>52932809; LV=0; NS=45; e=29539309; s=309; rC=SINE/Alu |
GTFORMAT : GT |
0CHM13 : 0 |
0|0HG00438 : 0|0 |
0|0HG00621 : 0|0 |
0|0HG00673 : 0|0 |
0|0HG00733 : 0|0 |
0|0HG00735 : 0|0 |
0|0HG00741 : 0|0 |
0|0HG01071 : 0|0 |
0|0HG01106 : 0|0 |
0|0HG01109 : 0|0 |
0|0HG01123 : 0|0 |
0|0HG01175 : 0|0 |
0|0HG01243 : 0|0 |
0|0HG01258 : 0|0 |
0|0HG01358 : 0|0 |
0|0HG01361 : 0|0 |
0|0HG01891 : 0|0 |
0|0HG01928 : 0|0 |
0|0HG01952 : 0|0 |
0|1HG01978 : 0|1 |
0|0HG02055 : 0|0 |
0|0HG02080 : 0|0 |
0|0HG02109 : 0|0 |
0|0HG02145 : 0|0 |
0|0HG02148 : 0|0 |
0|0HG02257 : 0|0 |
0|0HG02486 : 0|0 |
0|0HG02559 : 0|0 |
0|0HG02572 : 0|0 |
0|0HG02622 : 0|0 |
0|0HG02630 : 0|0 |
0|0HG02717 : 0|0 |
0|0HG02723 : 0|0 |
0|0HG02818 : 0|0 |
0|0HG02886 : 0|0 |
0|0HG03098 : 0|0 |
0|0HG03453 : 0|0 |
0|0HG03486 : 0|0 |
0|0HG03492 : 0|0 |
0|0HG03516 : 0|0 |
0|0HG03540 : 0|0 |
0|0HG03579 : 0|0 |
0|0NA18906 : 0|0 |
0|0NA20129 : 0|0 |
0|0NA21309 : 0|0 |
|
full=NAACMG_class : full=NA |
INSSV_type : INS SV_length : 309 |
splitAnnotation_mode : split |
LOC105369714Gene_name : LOC105369714; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
intron5-intron5Location : intron5-intron5 CytoBand : p11.22 Location2 : UTR Tx : XR_007063258 Tx_version : 1 Tx_start : 29519730 Tx_end : 29556670 Exon_count : 6 Overlapped_tx_length : 1 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 5781 Nearest_SS_type : 5' Intersect_start : 29539308 Intersect_end : 29539309 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
CHM13,HG01978Samples_ID : CHM13,HG01978 |
>52932807>52932809ID : >52932807>52932809 |
TREF : T |
TAAAAATCAGTCCTTGGCTCACGCCTGTAATCCCAGCACTTTGGG[...]ALT : TAAAAATCAGTCCTTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAA |
60QUAL : 60 |
.FILTER : . |
AC=1; AF=0.011236; AN=89; AT=>52932807>[...]INFO : AC=1; AF=0.011236; AN=89; AT=>52932807>52932809,>52932807>52932808>52932809; LV=0; NS=45; e=29539309; s=309; rC=SINE/Alu |
GTFORMAT : GT |
0CHM13 : 0 |
0|0HG00438 : 0|0 |
0|0HG00621 : 0|0 |
0|0HG00673 : 0|0 |
0|0HG00733 : 0|0 |
0|0HG00735 : 0|0 |
0|0HG00741 : 0|0 |
0|0HG01071 : 0|0 |
0|0HG01106 : 0|0 |
0|0HG01109 : 0|0 |
0|0HG01123 : 0|0 |
0|0HG01175 : 0|0 |
0|0HG01243 : 0|0 |
0|0HG01258 : 0|0 |
0|0HG01358 : 0|0 |
0|0HG01361 : 0|0 |
0|0HG01891 : 0|0 |
0|0HG01928 : 0|0 |
0|0HG01952 : 0|0 |
0|1HG01978 : 0|1 |
0|0HG02055 : 0|0 |
0|0HG02080 : 0|0 |
0|0HG02109 : 0|0 |
0|0HG02145 : 0|0 |
0|0HG02148 : 0|0 |
0|0HG02257 : 0|0 |
0|0HG02486 : 0|0 |
0|0HG02559 : 0|0 |
0|0HG02572 : 0|0 |
0|0HG02622 : 0|0 |
0|0HG02630 : 0|0 |
0|0HG02717 : 0|0 |
0|0HG02723 : 0|0 |
0|0HG02818 : 0|0 |
0|0HG02886 : 0|0 |
0|0HG03098 : 0|0 |
0|0HG03453 : 0|0 |
0|0HG03486 : 0|0 |
0|0HG03492 : 0|0 |
0|0HG03516 : 0|0 |
0|0HG03540 : 0|0 |
0|0HG03579 : 0|0 |
0|0NA18906 : 0|0 |
0|0NA20129 : 0|0 |
0|0NA21309 : 0|0 |
|
NAACMG_class : NA AnnotSV_ranking_score : . AnnotSV_ranking_criteria : . |
INSSV_type : INS SV_length : 975 Gene_count : 2 |
fullAnnotation_mode : full |
LOC105369321; LINC00301; [...2genes]Gene_name : LOC105369321; LINC00301; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . Closest_left : MS4A13 Closest_right : MS4A8 |
.Location : . CytoBand : q12.2 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_gain_phen : . po_P_gain_hpo : . po_P_gain_source : dbVar:nssv15171978; dbVar:nssv15158476; dbVar:nssv15150306; nssv15150623; dbVar:nssv17976763; dbVar:nssv17976823; dbVar:nssv15155374 po_P_gain_coord : 11:70865-135068576; 11:198511-135064169; 11:230617-135068576; 11:32777936-135068576; 11:43586337-61699199; 11:59167743-62410184 po_P_gain_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00 po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv16867095 po_P_loss_coord : 11:11814023-118502397 po_P_loss_percent : 0.00 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_gain_allG_source : . po_B_gain_allG_coord : . po_B_gain_someG_source : . po_B_gain_someG_coord : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 11:60682068-60683699 Repeat_type_left : L1M4 Gap_left : . GC_content_left : 0.250 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 11:60682068-60683699 Repeat_type_right : L1M4 Gap_right : . GC_content_right : 0.250 |
CHM13,HG00733,HG01361,HG01928,HG01978Samples_ID : CHM13,HG00733,HG01361,HG01928,HG01978 |
>51713454>51713452ID : >51713454>51713452 |
GREF : G |
GTGTAGGGGTGGGTTGCCCCTACACACCTGTGGGTGTTTCTCGTA[...]ALT : GTGTAGGGGTGGGTTGCCCCTACACACCTGTGGGTGTTTCTCGTAAGGTGGGACGAGAGATTTGGAAAAGAAAAAGACACAGAGACAAAGTATAGAGAAAGAAATAAGGGGAACCGGGGAACCAGCGTTCAGCATATGGAGGATCCCGCCAGCCTCTGAGTTCCCTTAGTATTTATTGATCATCTGTGGGTGTTTCTCAAAGAGGGGGATGTGTCAGGGTCACAAGACAATTGTGGGGAGAGGGTCAGCAGACAAACACGTGAACAAAGGTCTTGGCATCATAGACAATGTAAAGGATTAAGTGCTGTGCTTTTAGATATGCATACACATAAACATCTCAGTGCTTTACAAAGCAGTATTGCTGCCCGCAGGTCCCACCTCCAGCCCTAAGGCGGTTTTTCCCTATCTCAGTAGATGGAGCATACAATCGGGTTTTATACCGAGACATTCCATTGCCCAGGGACAGGCAGGAGACAGATGCCTTCCTCTTGTCTCAACTGCAAGAGGCGTTCCTTCCTCTTTTACTAATCCTCCTCAGCACAGACCCTTTATGGGTGTCGGGCTGGGGGACGGTCAGGTCTTTCCCTTCCCACGAGGCCATATTTCAGACTATCACATGGGGAGAAACCTTGGACAATACCTGGCTTTCCTAGGCAGAGGTCCCTGCGGCCTTCCGCAGTTTTTGTGTCCCTGGGTACTTGAGATTAGGGAGTGGTGATGACTGTTAAGGAGCATGCTGCCTTCAAGCATCTGTTTAACAAAGCACATCTTGCACCGCCCTTAATCCATTTAACTCTGAGTTGACACAGCACACATTTCAGAGAGCACGGGGTTGGGGGGTAAGGTTATAGATTAACAGAATCTCAAGGCAGAAGAATTTTTCTTAGTACATAACAAAATGGAGTCTCCTATGTCTACTTCTTTCTACACAGACACAGTAACAATCTGATCTCTCTTGCTTTTCCCCACAAAAATG |
60QUAL : 60 |
.FILTER : . |
AC=5; AF=0.0561798; AN=89; AT=>51713454>[...]INFO : AC=5; AF=0.0561798; AN=89; AT=>51713454>51713452,>51713454>51713453>51713452; LV=0; NS=45; e=60682422; s=975; rC=LTR/ERV |
GTFORMAT : GT |
0CHM13 : 0 |
0|0HG00438 : 0|0 |
0|0HG00621 : 0|0 |
0|0HG00673 : 0|0 |
1|1HG00733 : 1|1 |
0|0HG00735 : 0|0 |
0|0HG00741 : 0|0 |
0|0HG01071 : 0|0 |
0|0HG01106 : 0|0 |
0|0HG01109 : 0|0 |
0|0HG01123 : 0|0 |
0|0HG01175 : 0|0 |
0|0HG01243 : 0|0 |
0|0HG01258 : 0|0 |
0|0HG01358 : 0|0 |
0|1HG01361 : 0|1 |
0|0HG01891 : 0|0 |
1|0HG01928 : 1|0 |
0|0HG01952 : 0|0 |
0|1HG01978 : 0|1 |
0|0HG02055 : 0|0 |
0|0HG02080 : 0|0 |
0|0HG02109 : 0|0 |
0|0HG02145 : 0|0 |
0|0HG02148 : 0|0 |
0|0HG02257 : 0|0 |
0|0HG02486 : 0|0 |
0|0HG02559 : 0|0 |
0|0HG02572 : 0|0 |
0|0HG02622 : 0|0 |
0|0HG02630 : 0|0 |
0|0HG02717 : 0|0 |
0|0HG02723 : 0|0 |
0|0HG02818 : 0|0 |
0|0HG02886 : 0|0 |
0|0HG03098 : 0|0 |
0|0HG03453 : 0|0 |
0|0HG03486 : 0|0 |
0|0HG03492 : 0|0 |
0|0HG03516 : 0|0 |
0|0HG03540 : 0|0 |
0|0HG03579 : 0|0 |
0|0NA18906 : 0|0 |
0|0NA20129 : 0|0 |
0|0NA21309 : 0|0 |
|
full=NAACMG_class : full=NA |
INSSV_type : INS SV_length : 975 |
splitAnnotation_mode : split |
LINC00301Gene_name : LINC00301; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 283197 |
intron6-intron6Location : intron6-intron6 CytoBand : q12.2 Location2 : UTR Tx : NR_026946 Tx_version : 1 Tx_start : 60615750 Tx_end : 60687149 Exon_count : 7 Overlapped_tx_length : 1 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 4487 Nearest_SS_type : 3' Intersect_start : 60682421 Intersect_end : 60682422 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
CHM13,HG00733,HG01361,HG01928,HG01978Samples_ID : CHM13,HG00733,HG01361,HG01928,HG01978 |
>51713454>51713452ID : >51713454>51713452 |
GREF : G |
GTGTAGGGGTGGGTTGCCCCTACACACCTGTGGGTGTTTCTCGTA[...]ALT : GTGTAGGGGTGGGTTGCCCCTACACACCTGTGGGTGTTTCTCGTAAGGTGGGACGAGAGATTTGGAAAAGAAAAAGACACAGAGACAAAGTATAGAGAAAGAAATAAGGGGAACCGGGGAACCAGCGTTCAGCATATGGAGGATCCCGCCAGCCTCTGAGTTCCCTTAGTATTTATTGATCATCTGTGGGTGTTTCTCAAAGAGGGGGATGTGTCAGGGTCACAAGACAATTGTGGGGAGAGGGTCAGCAGACAAACACGTGAACAAAGGTCTTGGCATCATAGACAATGTAAAGGATTAAGTGCTGTGCTTTTAGATATGCATACACATAAACATCTCAGTGCTTTACAAAGCAGTATTGCTGCCCGCAGGTCCCACCTCCAGCCCTAAGGCGGTTTTTCCCTATCTCAGTAGATGGAGCATACAATCGGGTTTTATACCGAGACATTCCATTGCCCAGGGACAGGCAGGAGACAGATGCCTTCCTCTTGTCTCAACTGCAAGAGGCGTTCCTTCCTCTTTTACTAATCCTCCTCAGCACAGACCCTTTATGGGTGTCGGGCTGGGGGACGGTCAGGTCTTTCCCTTCCCACGAGGCCATATTTCAGACTATCACATGGGGAGAAACCTTGGACAATACCTGGCTTTCCTAGGCAGAGGTCCCTGCGGCCTTCCGCAGTTTTTGTGTCCCTGGGTACTTGAGATTAGGGAGTGGTGATGACTGTTAAGGAGCATGCTGCCTTCAAGCATCTGTTTAACAAAGCACATCTTGCACCGCCCTTAATCCATTTAACTCTGAGTTGACACAGCACACATTTCAGAGAGCACGGGGTTGGGGGGTAAGGTTATAGATTAACAGAATCTCAAGGCAGAAGAATTTTTCTTAGTACATAACAAAATGGAGTCTCCTATGTCTACTTCTTTCTACACAGACACAGTAACAATCTGATCTCTCTTGCTTTTCCCCACAAAAATG |
60QUAL : 60 |
.FILTER : . |
AC=5; AF=0.0561798; AN=89; AT=>51713454>[...]INFO : AC=5; AF=0.0561798; AN=89; AT=>51713454>51713452,>51713454>51713453>51713452; LV=0; NS=45; e=60682422; s=975; rC=LTR/ERV |
GTFORMAT : GT |
0CHM13 : 0 |
0|0HG00438 : 0|0 |
0|0HG00621 : 0|0 |
0|0HG00673 : 0|0 |
1|1HG00733 : 1|1 |
0|0HG00735 : 0|0 |
0|0HG00741 : 0|0 |
0|0HG01071 : 0|0 |
0|0HG01106 : 0|0 |
0|0HG01109 : 0|0 |
0|0HG01123 : 0|0 |
0|0HG01175 : 0|0 |
0|0HG01243 : 0|0 |
0|0HG01258 : 0|0 |
0|0HG01358 : 0|0 |
0|1HG01361 : 0|1 |
0|0HG01891 : 0|0 |
1|0HG01928 : 1|0 |
0|0HG01952 : 0|0 |
0|1HG01978 : 0|1 |
0|0HG02055 : 0|0 |
0|0HG02080 : 0|0 |
0|0HG02109 : 0|0 |
0|0HG02145 : 0|0 |
0|0HG02148 : 0|0 |
0|0HG02257 : 0|0 |
0|0HG02486 : 0|0 |
0|0HG02559 : 0|0 |
0|0HG02572 : 0|0 |
0|0HG02622 : 0|0 |
0|0HG02630 : 0|0 |
0|0HG02717 : 0|0 |
0|0HG02723 : 0|0 |
0|0HG02818 : 0|0 |
0|0HG02886 : 0|0 |
0|0HG03098 : 0|0 |
0|0HG03453 : 0|0 |
0|0HG03486 : 0|0 |
0|0HG03492 : 0|0 |
0|0HG03516 : 0|0 |
0|0HG03540 : 0|0 |
0|0HG03579 : 0|0 |
0|0NA18906 : 0|0 |
0|0NA20129 : 0|0 |
0|0NA21309 : 0|0 |
|
full=NAACMG_class : full=NA |
INSSV_type : INS SV_length : 975 |
splitAnnotation_mode : split |
LOC105369321Gene_name : LOC105369321; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
intron1-intron1Location : intron1-intron1 CytoBand : q12.2 Location2 : UTR Tx : XR_950148 Tx_version : 2 Tx_start : 60608294 Tx_end : 60683870 Exon_count : 5 Overlapped_tx_length : 1 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 1373 Nearest_SS_type : 5' Intersect_start : 60682421 Intersect_end : 60682422 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
CHM13,HG00733,HG01361,HG01928,HG01978Samples_ID : CHM13,HG00733,HG01361,HG01928,HG01978 |
>51713454>51713452ID : >51713454>51713452 |
GREF : G |
GTGTAGGGGTGGGTTGCCCCTACACACCTGTGGGTGTTTCTCGTA[...]ALT : GTGTAGGGGTGGGTTGCCCCTACACACCTGTGGGTGTTTCTCGTAAGGTGGGACGAGAGATTTGGAAAAGAAAAAGACACAGAGACAAAGTATAGAGAAAGAAATAAGGGGAACCGGGGAACCAGCGTTCAGCATATGGAGGATCCCGCCAGCCTCTGAGTTCCCTTAGTATTTATTGATCATCTGTGGGTGTTTCTCAAAGAGGGGGATGTGTCAGGGTCACAAGACAATTGTGGGGAGAGGGTCAGCAGACAAACACGTGAACAAAGGTCTTGGCATCATAGACAATGTAAAGGATTAAGTGCTGTGCTTTTAGATATGCATACACATAAACATCTCAGTGCTTTACAAAGCAGTATTGCTGCCCGCAGGTCCCACCTCCAGCCCTAAGGCGGTTTTTCCCTATCTCAGTAGATGGAGCATACAATCGGGTTTTATACCGAGACATTCCATTGCCCAGGGACAGGCAGGAGACAGATGCCTTCCTCTTGTCTCAACTGCAAGAGGCGTTCCTTCCTCTTTTACTAATCCTCCTCAGCACAGACCCTTTATGGGTGTCGGGCTGGGGGACGGTCAGGTCTTTCCCTTCCCACGAGGCCATATTTCAGACTATCACATGGGGAGAAACCTTGGACAATACCTGGCTTTCCTAGGCAGAGGTCCCTGCGGCCTTCCGCAGTTTTTGTGTCCCTGGGTACTTGAGATTAGGGAGTGGTGATGACTGTTAAGGAGCATGCTGCCTTCAAGCATCTGTTTAACAAAGCACATCTTGCACCGCCCTTAATCCATTTAACTCTGAGTTGACACAGCACACATTTCAGAGAGCACGGGGTTGGGGGGTAAGGTTATAGATTAACAGAATCTCAAGGCAGAAGAATTTTTCTTAGTACATAACAAAATGGAGTCTCCTATGTCTACTTCTTTCTACACAGACACAGTAACAATCTGATCTCTCTTGCTTTTCCCCACAAAAATG |
60QUAL : 60 |
.FILTER : . |
AC=5; AF=0.0561798; AN=89; AT=>51713454>[...]INFO : AC=5; AF=0.0561798; AN=89; AT=>51713454>51713452,>51713454>51713453>51713452; LV=0; NS=45; e=60682422; s=975; rC=LTR/ERV |
GTFORMAT : GT |
0CHM13 : 0 |
0|0HG00438 : 0|0 |
0|0HG00621 : 0|0 |
0|0HG00673 : 0|0 |
1|1HG00733 : 1|1 |
0|0HG00735 : 0|0 |
0|0HG00741 : 0|0 |
0|0HG01071 : 0|0 |
0|0HG01106 : 0|0 |
0|0HG01109 : 0|0 |
0|0HG01123 : 0|0 |
0|0HG01175 : 0|0 |
0|0HG01243 : 0|0 |
0|0HG01258 : 0|0 |
0|0HG01358 : 0|0 |
0|1HG01361 : 0|1 |
0|0HG01891 : 0|0 |
1|0HG01928 : 1|0 |
0|0HG01952 : 0|0 |
0|1HG01978 : 0|1 |
0|0HG02055 : 0|0 |
0|0HG02080 : 0|0 |
0|0HG02109 : 0|0 |
0|0HG02145 : 0|0 |
0|0HG02148 : 0|0 |
0|0HG02257 : 0|0 |
0|0HG02486 : 0|0 |
0|0HG02559 : 0|0 |
0|0HG02572 : 0|0 |
0|0HG02622 : 0|0 |
0|0HG02630 : 0|0 |
0|0HG02717 : 0|0 |
0|0HG02723 : 0|0 |
0|0HG02818 : 0|0 |
0|0HG02886 : 0|0 |
0|0HG03098 : 0|0 |
0|0HG03453 : 0|0 |
0|0HG03486 : 0|0 |
0|0HG03492 : 0|0 |
0|0HG03516 : 0|0 |
0|0HG03540 : 0|0 |
0|0HG03579 : 0|0 |
0|0NA18906 : 0|0 |
0|0NA20129 : 0|0 |
0|0NA21309 : 0|0 |
|
NAACMG_class : NA AnnotSV_ranking_score : . AnnotSV_ranking_criteria : . |
INSSV_type : INS SV_length : 333 Gene_count : 2 |
fullAnnotation_mode : full |
ENTPD1-AS1; CC2D2B; [...2genes]Gene_name : ENTPD1-AS1; CC2D2B; LOEUF_bin : 5 GnomAD_pLI : 6.9071e-08 ExAC_pLI : 2.5177e-05 HI : . TS : . DDD_HI_percent : 39.36 ExAC_cnvZ : -0.139473685788115 ExAC_delZ : -0.898928787269124 ExAC_dupZ : 0.359353273130691 ExAC_synZ : 0.0888648180227952 ExAC_misZ : -0.149183554557628 Closest_left : ENTPD1 Closest_right : CCNJ |
.Location : . CytoBand : q24.1 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_gain_phen : . po_P_gain_hpo : . po_P_gain_source : dbVar:nssv15171419; dbVar:nssv15161644; dbVar:nssv15171420; dbVar:nssv15161670; nssv15161864; dbVar:nssv18830975; dbVar:nssv15161673; dbVar:nssv15162413; dbVar:nssv15161032 po_P_gain_coord : 10:27297-133786996; 10:47358-133565414; 10:52148-133740558; 10:54088-133613639; 10:11096730-133613639; 10:91523737-133613639; 10:92586764-133613639; 10:95112608-116776637 po_P_gain_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00 po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv18830989; dbVar:nssv15125151; dbVar:nssv17969418; dbVar:nssv15150787; dbVar:nssv15133599; dbVar:nssv15147105 po_P_loss_coord : 10:12787208-133613639; 10:79925607-133787422; 10:90908125-97210627; 10:92148415-100049966; 10:92626681-97755102; 10:93181202-101356779 po_P_loss_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . B_loss_source : dbVar; gnomAD-SV_v3_DEL_chr10_244783f4; gnomAD-SV_v3_DEL_chr10_f048c376; gnomAD-SV_v3_DEL_chr10_f70efaa2 B_loss_coord : chr10:59459006-109812369; chr10:90655870-109812371; chr10:90661220-109812370; chr10:95946719-95999705; chr10:95953322-96028771; chr10:95958589-95986252 B_loss_AFmax : 0.4959 po_B_gain_allG_source : . po_B_gain_allG_coord : . po_B_gain_someG_source : . po_B_gain_someG_coord : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : chr10:90655870-109812371 gnomAD-SV_v3_DEL_chr10_244783f4; chr10:95946719-95999705 dbVar; chr10:95958589-95986252 dbVar po_B_loss_someG_coord : chr10:59459006-109812369 gnomAD-SV_v3_DEL_chr10_f70efaa2; chr10:90661220-109812370 gnomAD-SV_v3_DEL_chr10_f048c376; chr10:95953322-96028771 dbVar |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 10:95959436-95959757; 10:95959793-95960093 Repeat_type_left : L1M4c; DNA1_Mam Gap_left : . GC_content_left : 0.255 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 10:95959436-95959757; 10:95959793-95960093 Repeat_type_right : L1M4c; DNA1_Mam Gap_right : . GC_content_right : 0.255 |
CHM13,HG01071Samples_ID : CHM13,HG01071 |
>45223033>45223031ID : >45223033>45223031 |
TREF : T |
TGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGA[...]ALT : TGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGACTGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAATTAATTAGTGT |
60QUAL : 60 |
.FILTER : . |
AC=1; AF=0.011236; AN=89; AT=>45223033>[...]INFO : AC=1; AF=0.011236; AN=89; AT=>45223033>45223031,>45223033<45223032>45223031; LV=0; NS=45; e=95959736; s=333; rC=SINE/Alu |
GTFORMAT : GT |
0CHM13 : 0 |
0|0HG00438 : 0|0 |
0|0HG00621 : 0|0 |
0|0HG00673 : 0|0 |
0|0HG00733 : 0|0 |
0|0HG00735 : 0|0 |
0|0HG00741 : 0|0 |
1|0HG01071 : 1|0 |
0|0HG01106 : 0|0 |
0|0HG01109 : 0|0 |
0|0HG01123 : 0|0 |
0|0HG01175 : 0|0 |
0|0HG01243 : 0|0 |
0|0HG01258 : 0|0 |
0|0HG01358 : 0|0 |
0|0HG01361 : 0|0 |
0|0HG01891 : 0|0 |
0|0HG01928 : 0|0 |
0|0HG01952 : 0|0 |
0|0HG01978 : 0|0 |
0|0HG02055 : 0|0 |
0|0HG02080 : 0|0 |
0|0HG02109 : 0|0 |
0|0HG02145 : 0|0 |
0|0HG02148 : 0|0 |
0|0HG02257 : 0|0 |
0|0HG02486 : 0|0 |
0|0HG02559 : 0|0 |
0|0HG02572 : 0|0 |
0|0HG02622 : 0|0 |
0|0HG02630 : 0|0 |
0|0HG02717 : 0|0 |
0|0HG02723 : 0|0 |
0|0HG02818 : 0|0 |
0|0HG02886 : 0|0 |
0|0HG03098 : 0|0 |
0|0HG03453 : 0|0 |
0|0HG03486 : 0|0 |
0|0HG03492 : 0|0 |
0|0HG03516 : 0|0 |
0|0HG03540 : 0|0 |
0|0HG03579 : 0|0 |
0|0NA18906 : 0|0 |
0|0NA20129 : 0|0 |
0|0NA21309 : 0|0 |
|
full=NAACMG_class : full=NA |
INSSV_type : INS SV_length : 333 |
splitAnnotation_mode : split |
CC2D2BGene_name : CC2D2B; LOEUF_bin : 5 GnomAD_pLI : 6.9071e-08 ExAC_pLI : 2.5177e-05 HI : . TS : . DDD_HI_percent : 39.36 ACMG : . ExAC_cnvZ : -0.139473685788115 ExAC_delZ : -0.898928787269124 ExAC_dupZ : 0.359353273130691 ExAC_synZ : 0.0888648180227952 ExAC_misZ : -0.149183554557628 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 387707 |
intron11-intron11Location : intron11-intron11 CytoBand : q24.1 Location2 : CDS Tx : XM_024447995 Tx_version : 2 Tx_start : 95907670 Tx_end : 96033745 Exon_count : 35 Overlapped_tx_length : 1 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 2092 Nearest_SS_type : 3' Intersect_start : 95959735 Intersect_end : 95959736 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . B_loss_source : dbVar; gnomAD-SV_v3_DEL_chr10_244783f4; gnomAD-SV_v3_DEL_chr10_f048c376; gnomAD-SV_v3_DEL_chr10_f70efaa2 B_loss_coord : chr10:59459006-109812369; chr10:90655870-109812371; chr10:90661220-109812370; chr10:95946719-95999705; chr10:95953322-96028771; chr10:95958589-95986252 B_loss_AFmax : 0.4959 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
CHM13,HG01071Samples_ID : CHM13,HG01071 |
>45223033>45223031ID : >45223033>45223031 |
TREF : T |
TGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGA[...]ALT : TGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGACTGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAATTAATTAGTGT |
60QUAL : 60 |
.FILTER : . |
AC=1; AF=0.011236; AN=89; AT=>45223033>[...]INFO : AC=1; AF=0.011236; AN=89; AT=>45223033>45223031,>45223033<45223032>45223031; LV=0; NS=45; e=95959736; s=333; rC=SINE/Alu |
GTFORMAT : GT |
0CHM13 : 0 |
0|0HG00438 : 0|0 |
0|0HG00621 : 0|0 |
0|0HG00673 : 0|0 |
0|0HG00733 : 0|0 |
0|0HG00735 : 0|0 |
0|0HG00741 : 0|0 |
1|0HG01071 : 1|0 |
0|0HG01106 : 0|0 |
0|0HG01109 : 0|0 |
0|0HG01123 : 0|0 |
0|0HG01175 : 0|0 |
0|0HG01243 : 0|0 |
0|0HG01258 : 0|0 |
0|0HG01358 : 0|0 |
0|0HG01361 : 0|0 |
0|0HG01891 : 0|0 |
0|0HG01928 : 0|0 |
0|0HG01952 : 0|0 |
0|0HG01978 : 0|0 |
0|0HG02055 : 0|0 |
0|0HG02080 : 0|0 |
0|0HG02109 : 0|0 |
0|0HG02145 : 0|0 |
0|0HG02148 : 0|0 |
0|0HG02257 : 0|0 |
0|0HG02486 : 0|0 |
0|0HG02559 : 0|0 |
0|0HG02572 : 0|0 |
0|0HG02622 : 0|0 |
0|0HG02630 : 0|0 |
0|0HG02717 : 0|0 |
0|0HG02723 : 0|0 |
0|0HG02818 : 0|0 |
0|0HG02886 : 0|0 |
0|0HG03098 : 0|0 |
0|0HG03453 : 0|0 |
0|0HG03486 : 0|0 |
0|0HG03492 : 0|0 |
0|0HG03516 : 0|0 |
0|0HG03540 : 0|0 |
0|0HG03579 : 0|0 |
0|0NA18906 : 0|0 |
0|0NA20129 : 0|0 |
0|0NA21309 : 0|0 |
|
full=NAACMG_class : full=NA |
INSSV_type : INS SV_length : 333 |
splitAnnotation_mode : split |
ENTPD1-AS1Gene_name : ENTPD1-AS1; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 728558 |
intron2-intron2Location : intron2-intron2 CytoBand : q24.1 Location2 : UTR Tx : NR_038444 Tx_version : 1 Tx_start : 95753205 Tx_end : 96090235 Exon_count : 6 Overlapped_tx_length : 1 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 83075 Nearest_SS_type : 3' Intersect_start : 95959735 Intersect_end : 95959736 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . B_loss_source : dbVar; gnomAD-SV_v3_DEL_chr10_244783f4; gnomAD-SV_v3_DEL_chr10_f048c376; gnomAD-SV_v3_DEL_chr10_f70efaa2 B_loss_coord : chr10:59459006-109812369; chr10:90655870-109812371; chr10:90661220-109812370; chr10:95946719-95999705; chr10:95953322-96028771; chr10:95958589-95986252 B_loss_AFmax : 0.4959 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
CHM13,HG01071Samples_ID : CHM13,HG01071 |
>45223033>45223031ID : >45223033>45223031 |
TREF : T |
TGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGA[...]ALT : TGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGACTGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAATTAATTAGTGT |
60QUAL : 60 |
.FILTER : . |
AC=1; AF=0.011236; AN=89; AT=>45223033>[...]INFO : AC=1; AF=0.011236; AN=89; AT=>45223033>45223031,>45223033<45223032>45223031; LV=0; NS=45; e=95959736; s=333; rC=SINE/Alu |
GTFORMAT : GT |
0CHM13 : 0 |
0|0HG00438 : 0|0 |
0|0HG00621 : 0|0 |
0|0HG00673 : 0|0 |
0|0HG00733 : 0|0 |
0|0HG00735 : 0|0 |
0|0HG00741 : 0|0 |
1|0HG01071 : 1|0 |
0|0HG01106 : 0|0 |
0|0HG01109 : 0|0 |
0|0HG01123 : 0|0 |
0|0HG01175 : 0|0 |
0|0HG01243 : 0|0 |
0|0HG01258 : 0|0 |
0|0HG01358 : 0|0 |
0|0HG01361 : 0|0 |
0|0HG01891 : 0|0 |
0|0HG01928 : 0|0 |
0|0HG01952 : 0|0 |
0|0HG01978 : 0|0 |
0|0HG02055 : 0|0 |
0|0HG02080 : 0|0 |
0|0HG02109 : 0|0 |
0|0HG02145 : 0|0 |
0|0HG02148 : 0|0 |
0|0HG02257 : 0|0 |
0|0HG02486 : 0|0 |
0|0HG02559 : 0|0 |
0|0HG02572 : 0|0 |
0|0HG02622 : 0|0 |
0|0HG02630 : 0|0 |
0|0HG02717 : 0|0 |
0|0HG02723 : 0|0 |
0|0HG02818 : 0|0 |
0|0HG02886 : 0|0 |
0|0HG03098 : 0|0 |
0|0HG03453 : 0|0 |
0|0HG03486 : 0|0 |
0|0HG03492 : 0|0 |
0|0HG03516 : 0|0 |
0|0HG03540 : 0|0 |
0|0HG03579 : 0|0 |
0|0NA18906 : 0|0 |
0|0NA20129 : 0|0 |
0|0NA21309 : 0|0 |
|
NAACMG_class : NA AnnotSV_ranking_score : . AnnotSV_ranking_criteria : . |
INSSV_type : INS SV_length : 329 Gene_count : 2 |
fullAnnotation_mode : full |
PPP1R9A; PPP1R9A-AS1; [...2genes]Gene_name : PPP1R9A; PPP1R9A-AS1; LOEUF_bin : 2 GnomAD_pLI : 1.0812e-05 ExAC_pLI : 5.1340e-02 HI : . TS : . DDD_HI_percent : 36.02 ExAC_cnvZ : -1.31688670371898 ExAC_delZ : -1.76368745997495 ExAC_dupZ : -1.07722006947382 ExAC_synZ : 0.126701540005756 ExAC_misZ : 0.10941077293284 Closest_left : PEG10 Closest_right : LOC124901848 |
.Location : . CytoBand : q21.3 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_gain_phen : . po_P_gain_hpo : . po_P_gain_source : dbVar:nssv15777247; dbVar:nssv15168013; dbVar:nssv15161666; nssv15161679; dbVar:nssv15168014; dbVar:nssv16867381 po_P_gain_coord : 7:10366-159327017; 7:10705-159329842; 7:43362-159327017; 7:44936-159333620; 7:87847871-100735704 po_P_gain_percent : 0.00; 0.00; 0.00; 0.00; 0.00 po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15161318; dbVar:nssv15139860; dbVar:nssv15138208; dbVar:nssv15143221; dbVar:nssv18330238; dbVar:nssv15128924; dbVar:nssv15151513; dbVar:nssv16216888; dbVar:nssv15167795; dbVar:nssv15149467; dbVar:nssv15132881 po_P_loss_coord : 7:54186-159282390; 7:84002635-95228883; 7:92759145-97568646; 7:92816139-100089362; 7:93092315-98682225; 7:93287241-95330121; 7:93655926-96651505; 7:93886821-96039421; 7:94070851-97321602; 7:94500515-95214765; 7:95127071-97873487 po_P_loss_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . B_loss_source : gnomAD-SV_v3_DEL_chr7_11db931b; gnomAD-SV_v3_DEL_chr7_4d7b9722 B_loss_coord : chr7:83903053-107770163; chr7:89874434-107770158 B_loss_AFmax : 0.2344 po_B_gain_allG_source : . po_B_gain_allG_coord : . po_B_gain_someG_source : . po_B_gain_someG_coord : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : chr7:89874434-107770158 gnomAD-SV_v3_DEL_chr7_11db931b po_B_loss_someG_coord : chr7:83903053-107770163 gnomAD-SV_v3_DEL_chr7_4d7b9722 |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 7:95148694-95150302 Repeat_type_left : L1MC1 Gap_left : . GC_content_left : 0.265 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 7:95148694-95150302 Repeat_type_right : L1MC1 Gap_right : . GC_content_right : 0.265 |
CHM13,HG00733,HG00735,HG00741,HG01109,HG01258[...]Samples_ID : CHM13,HG00733,HG00735,HG00741,HG01109,HG01258,HG01361,HG03453,NA20129 |
>33180431>33180433ID : >33180431>33180433 |
AREF : A |
ATATTCTACATTCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCC[...]ALT : ATATTCTACATTCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAGA |
60QUAL : 60 |
.FILTER : . |
AC=9; AF=0.101124; AN=89; AT=>33180431>[...]INFO : AC=9; AF=0.101124; AN=89; AT=>33180431>33180433,>33180431<33180432>33180433; LV=0; NS=45; e=95149741; s=329; rC=SINE/Alu |
GTFORMAT : GT |
0CHM13 : 0 |
0|0HG00438 : 0|0 |
0|0HG00621 : 0|0 |
0|0HG00673 : 0|0 |
0|1HG00733 : 0|1 |
1|1HG00735 : 1|1 |
1|0HG00741 : 1|0 |
0|0HG01071 : 0|0 |
0|0HG01106 : 0|0 |
1|0HG01109 : 1|0 |
0|0HG01123 : 0|0 |
0|0HG01175 : 0|0 |
0|0HG01243 : 0|0 |
0|1HG01258 : 0|1 |
0|0HG01358 : 0|0 |
0|1HG01361 : 0|1 |
0|0HG01891 : 0|0 |
0|0HG01928 : 0|0 |
0|0HG01952 : 0|0 |
0|0HG01978 : 0|0 |
0|0HG02055 : 0|0 |
0|0HG02080 : 0|0 |
0|0HG02109 : 0|0 |
0|0HG02145 : 0|0 |
0|0HG02148 : 0|0 |
0|0HG02257 : 0|0 |
0|0HG02486 : 0|0 |
0|0HG02559 : 0|0 |
0|0HG02572 : 0|0 |
0|0HG02622 : 0|0 |
0|0HG02630 : 0|0 |
0|0HG02717 : 0|0 |
0|0HG02723 : 0|0 |
0|0HG02818 : 0|0 |
0|0HG02886 : 0|0 |
0|0HG03098 : 0|0 |
0|1HG03453 : 0|1 |
0|0HG03486 : 0|0 |
0|0HG03492 : 0|0 |
0|0HG03516 : 0|0 |
0|0HG03540 : 0|0 |
0|0HG03579 : 0|0 |
0|0NA18906 : 0|0 |
0|1NA20129 : 0|1 |
0|0NA21309 : 0|0 |
|
full=NAACMG_class : full=NA |
INSSV_type : INS SV_length : 329 |
splitAnnotation_mode : split |
PPP1R9AGene_name : PPP1R9A; LOEUF_bin : 2 GnomAD_pLI : 1.0812e-05 ExAC_pLI : 5.1340e-02 HI : 0 TS : 0 DDD_HI_percent : 36.02 ACMG : . ExAC_cnvZ : -1.31688670371898 ExAC_delZ : -1.76368745997495 ExAC_dupZ : -1.07722006947382 ExAC_synZ : 0.126701540005756 ExAC_misZ : 0.10941077293284 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 55607 |
intron4-intron4Location : intron4-intron4 CytoBand : q21.3 Location2 : CDS Tx : XM_047420574 Tx_version : 1 Tx_start : 94907235 Tx_end : 95296415 Exon_count : 22 Overlapped_tx_length : 1 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 12125 Nearest_SS_type : 3' Intersect_start : 95149740 Intersect_end : 95149741 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . B_loss_source : gnomAD-SV_v3_DEL_chr7_11db931b; gnomAD-SV_v3_DEL_chr7_4d7b9722 B_loss_coord : chr7:83903053-107770163; chr7:89874434-107770158 B_loss_AFmax : 0.2344 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
CHM13,HG00733,HG00735,HG00741,HG01109,HG01258[...]Samples_ID : CHM13,HG00733,HG00735,HG00741,HG01109,HG01258,HG01361,HG03453,NA20129 |
>33180431>33180433ID : >33180431>33180433 |
AREF : A |
ATATTCTACATTCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCC[...]ALT : ATATTCTACATTCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAGA |
60QUAL : 60 |
.FILTER : . |
AC=9; AF=0.101124; AN=89; AT=>33180431>[...]INFO : AC=9; AF=0.101124; AN=89; AT=>33180431>33180433,>33180431<33180432>33180433; LV=0; NS=45; e=95149741; s=329; rC=SINE/Alu |
GTFORMAT : GT |
0CHM13 : 0 |
0|0HG00438 : 0|0 |
0|0HG00621 : 0|0 |
0|0HG00673 : 0|0 |
0|1HG00733 : 0|1 |
1|1HG00735 : 1|1 |
1|0HG00741 : 1|0 |
0|0HG01071 : 0|0 |
0|0HG01106 : 0|0 |
1|0HG01109 : 1|0 |
0|0HG01123 : 0|0 |
0|0HG01175 : 0|0 |
0|0HG01243 : 0|0 |
0|1HG01258 : 0|1 |
0|0HG01358 : 0|0 |
0|1HG01361 : 0|1 |
0|0HG01891 : 0|0 |
0|0HG01928 : 0|0 |
0|0HG01952 : 0|0 |
0|0HG01978 : 0|0 |
0|0HG02055 : 0|0 |
0|0HG02080 : 0|0 |
0|0HG02109 : 0|0 |
0|0HG02145 : 0|0 |
0|0HG02148 : 0|0 |
0|0HG02257 : 0|0 |
0|0HG02486 : 0|0 |
0|0HG02559 : 0|0 |
0|0HG02572 : 0|0 |
0|0HG02622 : 0|0 |
0|0HG02630 : 0|0 |
0|0HG02717 : 0|0 |
0|0HG02723 : 0|0 |
0|0HG02818 : 0|0 |
0|0HG02886 : 0|0 |
0|0HG03098 : 0|0 |
0|1HG03453 : 0|1 |
0|0HG03486 : 0|0 |
0|0HG03492 : 0|0 |
0|0HG03516 : 0|0 |
0|0HG03540 : 0|0 |
0|0HG03579 : 0|0 |
0|0NA18906 : 0|0 |
0|1NA20129 : 0|1 |
0|0NA21309 : 0|0 |
|
full=NAACMG_class : full=NA |
INSSV_type : INS SV_length : 329 |
splitAnnotation_mode : split |
PPP1R9A-AS1Gene_name : PPP1R9A-AS1; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 105375405 |
intron1-intron1Location : intron1-intron1 CytoBand : q21.3 Location2 : UTR Tx : NR_183323 Tx_version : 1 Tx_start : 95035691 Tx_end : 95214332 Exon_count : 2 Overlapped_tx_length : 1 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 64443 Nearest_SS_type : 5' Intersect_start : 95149740 Intersect_end : 95149741 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . B_loss_source : gnomAD-SV_v3_DEL_chr7_11db931b; gnomAD-SV_v3_DEL_chr7_4d7b9722 B_loss_coord : chr7:83903053-107770163; chr7:89874434-107770158 B_loss_AFmax : 0.2344 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
CHM13,HG00733,HG00735,HG00741,HG01109,HG01258[...]Samples_ID : CHM13,HG00733,HG00735,HG00741,HG01109,HG01258,HG01361,HG03453,NA20129 |
>33180431>33180433ID : >33180431>33180433 |
AREF : A |
ATATTCTACATTCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCC[...]ALT : ATATTCTACATTCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAGA |
60QUAL : 60 |
.FILTER : . |
AC=9; AF=0.101124; AN=89; AT=>33180431>[...]INFO : AC=9; AF=0.101124; AN=89; AT=>33180431>33180433,>33180431<33180432>33180433; LV=0; NS=45; e=95149741; s=329; rC=SINE/Alu |
GTFORMAT : GT |
0CHM13 : 0 |
0|0HG00438 : 0|0 |
0|0HG00621 : 0|0 |
0|0HG00673 : 0|0 |
0|1HG00733 : 0|1 |
1|1HG00735 : 1|1 |
1|0HG00741 : 1|0 |
0|0HG01071 : 0|0 |
0|0HG01106 : 0|0 |
1|0HG01109 : 1|0 |
0|0HG01123 : 0|0 |
0|0HG01175 : 0|0 |
0|0HG01243 : 0|0 |
0|1HG01258 : 0|1 |
0|0HG01358 : 0|0 |
0|1HG01361 : 0|1 |
0|0HG01891 : 0|0 |
0|0HG01928 : 0|0 |
0|0HG01952 : 0|0 |
0|0HG01978 : 0|0 |
0|0HG02055 : 0|0 |
0|0HG02080 : 0|0 |
0|0HG02109 : 0|0 |
0|0HG02145 : 0|0 |
0|0HG02148 : 0|0 |
0|0HG02257 : 0|0 |
0|0HG02486 : 0|0 |
0|0HG02559 : 0|0 |
0|0HG02572 : 0|0 |
0|0HG02622 : 0|0 |
0|0HG02630 : 0|0 |
0|0HG02717 : 0|0 |
0|0HG02723 : 0|0 |
0|0HG02818 : 0|0 |
0|0HG02886 : 0|0 |
0|0HG03098 : 0|0 |
0|1HG03453 : 0|1 |
0|0HG03486 : 0|0 |
0|0HG03492 : 0|0 |
0|0HG03516 : 0|0 |
0|0HG03540 : 0|0 |
0|0HG03579 : 0|0 |
0|0NA18906 : 0|0 |
0|1NA20129 : 0|1 |
0|0NA21309 : 0|0 |
|
NAACMG_class : NA AnnotSV_ranking_score : . AnnotSV_ranking_criteria : . |
INSSV_type : INS SV_length : 289 Gene_count : 2 |
fullAnnotation_mode : full |
CFAP20DC; CFAP20DC-AS1; [...2genes]Gene_name : CFAP20DC; CFAP20DC-AS1; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . Closest_left : LOC105377109 Closest_right : CFAP20DC-DT |
.Location : . CytoBand : p14.2 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_gain_phen : . po_P_gain_hpo : . po_P_gain_source : dbVar:nssv15162889; dbVar:nssv15164144; dbVar:nssv15149891; nssv15151839 po_P_gain_coord : 3:18497-198221156; 3:19818-198111391; 3:20215-198125115 po_P_gain_percent : 0.00; 0.00; 0.00 po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15124528; dbVar:nssv15146214; dbVar:nssv15774780; dbVar:nssv15148889; dbVar:nssv15147494 po_P_loss_coord : 3:52052584-59703483; 3:54045019-66060461; 3:57042109-65731281; 3:57140425-90259960; 3:57430539-64884522 po_P_loss_percent : 0.00; 0.00; 0.00; 0.00; 0.00 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . B_loss_source : dbVar; gnomAD-SV_v3_DEL_chr3_9b8d4286 B_loss_coord : chr3:11110259-145805573; chr3:58933088-59035852 B_loss_AFmax : 0.0446 po_B_gain_allG_source : . po_B_gain_allG_coord : . po_B_gain_someG_source : . po_B_gain_someG_coord : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : chr3:58933088-59035852 dbVar po_B_loss_someG_coord : chr3:11110259-145805573 gnomAD-SV_v3_DEL_chr3_9b8d4286 |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 3:58944535-58944659 Repeat_type_left : L2b Gap_left : . GC_content_left : 0.415 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 3:58944535-58944659 Repeat_type_right : L2b Gap_right : . GC_content_right : 0.420 |
CHM13,HG01243,HG01891,HG02145Samples_ID : CHM13,HG01243,HG01891,HG02145 |
>16052227>16052229ID : >16052227>16052229 |
TREF : T |
TTATATTCTTTCTTTTTTCTTTTCTTTTTTTTTTTTTTTTTTTGA[...]ALT : TTATATTCTTTCTTTTTTCTTTTCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTG |
60QUAL : 60 |
.FILTER : . |
AC=3; AF=0.0337079; AN=89; AT=>16052227>[...]INFO : AC=3; AF=0.0337079; AN=89; AT=>16052227>16052229,>16052227>16052228>16052229; LV=0; NS=45; e=58944666; s=289; rC=SINE/Alu |
GTFORMAT : GT |
0CHM13 : 0 |
0|0HG00438 : 0|0 |
0|0HG00621 : 0|0 |
0|0HG00673 : 0|0 |
0|0HG00733 : 0|0 |
0|0HG00735 : 0|0 |
0|0HG00741 : 0|0 |
0|0HG01071 : 0|0 |
0|0HG01106 : 0|0 |
0|0HG01109 : 0|0 |
0|0HG01123 : 0|0 |
0|0HG01175 : 0|0 |
0|1HG01243 : 0|1 |
0|0HG01258 : 0|0 |
0|0HG01358 : 0|0 |
0|0HG01361 : 0|0 |
0|1HG01891 : 0|1 |
0|0HG01928 : 0|0 |
0|0HG01952 : 0|0 |
0|0HG01978 : 0|0 |
0|0HG02055 : 0|0 |
0|0HG02080 : 0|0 |
0|0HG02109 : 0|0 |
0|1HG02145 : 0|1 |
0|0HG02148 : 0|0 |
0|0HG02257 : 0|0 |
0|0HG02486 : 0|0 |
0|0HG02559 : 0|0 |
0|0HG02572 : 0|0 |
0|0HG02622 : 0|0 |
0|0HG02630 : 0|0 |
0|0HG02717 : 0|0 |
0|0HG02723 : 0|0 |
0|0HG02818 : 0|0 |
0|0HG02886 : 0|0 |
0|0HG03098 : 0|0 |
0|0HG03453 : 0|0 |
0|0HG03486 : 0|0 |
0|0HG03492 : 0|0 |
0|0HG03516 : 0|0 |
0|0HG03540 : 0|0 |
0|0HG03579 : 0|0 |
0|0NA18906 : 0|0 |
0|0NA20129 : 0|0 |
0|0NA21309 : 0|0 |
|
full=NAACMG_class : full=NA |
INSSV_type : INS SV_length : 289 |
splitAnnotation_mode : split |
CFAP20DC-AS1Gene_name : CFAP20DC-AS1; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 101929238 |
intron1-intron1Location : intron1-intron1 CytoBand : p14.2 Location2 : UTR Tx : NR_110820 Tx_version : 1 Tx_start : 58824470 Tx_end : 59019093 Exon_count : 3 Overlapped_tx_length : 1 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 25691 Nearest_SS_type : 3' Intersect_start : 58944665 Intersect_end : 58944666 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . B_loss_source : dbVar; gnomAD-SV_v3_DEL_chr3_9b8d4286 B_loss_coord : chr3:11110259-145805573; chr3:58933088-59035852 B_loss_AFmax : 0.0446 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
CHM13,HG01243,HG01891,HG02145Samples_ID : CHM13,HG01243,HG01891,HG02145 |
>16052227>16052229ID : >16052227>16052229 |
TREF : T |
TTATATTCTTTCTTTTTTCTTTTCTTTTTTTTTTTTTTTTTTTGA[...]ALT : TTATATTCTTTCTTTTTTCTTTTCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTG |
60QUAL : 60 |
.FILTER : . |
AC=3; AF=0.0337079; AN=89; AT=>16052227>[...]INFO : AC=3; AF=0.0337079; AN=89; AT=>16052227>16052229,>16052227>16052228>16052229; LV=0; NS=45; e=58944666; s=289; rC=SINE/Alu |
GTFORMAT : GT |
0CHM13 : 0 |
0|0HG00438 : 0|0 |
0|0HG00621 : 0|0 |
0|0HG00673 : 0|0 |
0|0HG00733 : 0|0 |
0|0HG00735 : 0|0 |
0|0HG00741 : 0|0 |
0|0HG01071 : 0|0 |
0|0HG01106 : 0|0 |
0|0HG01109 : 0|0 |
0|0HG01123 : 0|0 |
0|0HG01175 : 0|0 |
0|1HG01243 : 0|1 |
0|0HG01258 : 0|0 |
0|0HG01358 : 0|0 |
0|0HG01361 : 0|0 |
0|1HG01891 : 0|1 |
0|0HG01928 : 0|0 |
0|0HG01952 : 0|0 |
0|0HG01978 : 0|0 |
0|0HG02055 : 0|0 |
0|0HG02080 : 0|0 |
0|0HG02109 : 0|0 |
0|1HG02145 : 0|1 |
0|0HG02148 : 0|0 |
0|0HG02257 : 0|0 |
0|0HG02486 : 0|0 |
0|0HG02559 : 0|0 |
0|0HG02572 : 0|0 |
0|0HG02622 : 0|0 |
0|0HG02630 : 0|0 |
0|0HG02717 : 0|0 |
0|0HG02723 : 0|0 |
0|0HG02818 : 0|0 |
0|0HG02886 : 0|0 |
0|0HG03098 : 0|0 |
0|0HG03453 : 0|0 |
0|0HG03486 : 0|0 |
0|0HG03492 : 0|0 |
0|0HG03516 : 0|0 |
0|0HG03540 : 0|0 |
0|0HG03579 : 0|0 |
0|0NA18906 : 0|0 |
0|0NA20129 : 0|0 |
0|0NA21309 : 0|0 |
|
full=NAACMG_class : full=NA |
INSSV_type : INS SV_length : 289 |
splitAnnotation_mode : split |
intron4-intron4Location : intron4-intron4 CytoBand : p14.2 Location2 : UTR Tx : XR_001740051 Tx_version : 3 Tx_start : 58716172 Tx_end : 59050025 Exon_count : 18 Overlapped_tx_length : 1 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 6903 Nearest_SS_type : 3' Intersect_start : 58944665 Intersect_end : 58944666 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . B_loss_source : dbVar; gnomAD-SV_v3_DEL_chr3_9b8d4286 B_loss_coord : chr3:11110259-145805573; chr3:58933088-59035852 B_loss_AFmax : 0.0446 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
CHM13,HG01243,HG01891,HG02145Samples_ID : CHM13,HG01243,HG01891,HG02145 |
>16052227>16052229ID : >16052227>16052229 |
TREF : T |
TTATATTCTTTCTTTTTTCTTTTCTTTTTTTTTTTTTTTTTTTGA[...]ALT : TTATATTCTTTCTTTTTTCTTTTCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTG |
60QUAL : 60 |
.FILTER : . |
AC=3; AF=0.0337079; AN=89; AT=>16052227>[...]INFO : AC=3; AF=0.0337079; AN=89; AT=>16052227>16052229,>16052227>16052228>16052229; LV=0; NS=45; e=58944666; s=289; rC=SINE/Alu |
GTFORMAT : GT |
0CHM13 : 0 |
0|0HG00438 : 0|0 |
0|0HG00621 : 0|0 |
0|0HG00673 : 0|0 |
0|0HG00733 : 0|0 |
0|0HG00735 : 0|0 |
0|0HG00741 : 0|0 |
0|0HG01071 : 0|0 |
0|0HG01106 : 0|0 |
0|0HG01109 : 0|0 |
0|0HG01123 : 0|0 |
0|0HG01175 : 0|0 |
0|1HG01243 : 0|1 |
0|0HG01258 : 0|0 |
0|0HG01358 : 0|0 |
0|0HG01361 : 0|0 |
0|1HG01891 : 0|1 |
0|0HG01928 : 0|0 |
0|0HG01952 : 0|0 |
0|0HG01978 : 0|0 |
0|0HG02055 : 0|0 |
0|0HG02080 : 0|0 |
0|0HG02109 : 0|0 |
0|1HG02145 : 0|1 |
0|0HG02148 : 0|0 |
0|0HG02257 : 0|0 |
0|0HG02486 : 0|0 |
0|0HG02559 : 0|0 |
0|0HG02572 : 0|0 |
0|0HG02622 : 0|0 |
0|0HG02630 : 0|0 |
0|0HG02717 : 0|0 |
0|0HG02723 : 0|0 |
0|0HG02818 : 0|0 |
0|0HG02886 : 0|0 |
0|0HG03098 : 0|0 |
0|0HG03453 : 0|0 |
0|0HG03486 : 0|0 |
0|0HG03492 : 0|0 |
0|0HG03516 : 0|0 |
0|0HG03540 : 0|0 |
0|0HG03579 : 0|0 |
0|0NA18906 : 0|0 |
0|0NA20129 : 0|0 |
0|0NA21309 : 0|0 |
||
NAACMG_class : NA AnnotSV_ranking_score : . AnnotSV_ranking_criteria : . |
INSSV_type : INS SV_length : 480 Gene_count : 1 |
fullAnnotation_mode : full |
DCCGene_name : DCC; LOEUF_bin : 1 GnomAD_pLI : 9.9448e-01 ExAC_pLI : 1.0000e+00 HI : . TS : . DDD_HI_percent : 1.44 ExAC_cnvZ : 0.608948223776361 ExAC_delZ : 0.686808371719195 ExAC_dupZ : 0.422606156903191 ExAC_synZ : -0.918640774398169 ExAC_misZ : 0.149129298898277 Closest_left : LOC105372121 Closest_right : MIR4528 |
.Location : . CytoBand : q21.2 |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_gain_phen : . po_P_gain_hpo : . po_P_gain_source : dbVar:nssv17976993; dbVar:nssv15174218; dbVar:nssv15173597; dbVar:nssv15146417; dbVar:nssv15147412; dbVar:nssv15148237; nssv17969152; dbVar:nssv15148196; nssv15150633; dbVar:nssv15145762; dbVar:nssv15146335; nssv15148275; dbVar:nssv15147988; dbVar:nssv15147431; dbVar:nssv15147830; dbVar:nssv15147673; dbVar:nssv15151212; dbVar:nssv15128647; dbVar:nssv15150311; dbVar:nssv15132210; dbVar:nssv15139135; dbVar:nssv15140063; dbVar:nssv15132211; dbVar:nssv17649868; dbVar:nssv15134857; dbVar:nssv15152160; dbVar:nssv15151252; dbVar:nssv15155583; dbVar:nssv15134862; dbVar:nssv15138318; dbVar:nssv15134660; dbVar:nssv15142560; dbVar:nssv15143113; dbVar:nssv15775313; dbVar:nssv15137097; dbVar:nssv15142439; dbVar:nssv15132092 po_P_gain_coord : 18:10002-80259271; 18:12843-80257297; 18:13035-80257297; 18:53346-80209986; 18:118761-80254946; 18:136227-80256240; 18:136228-80256240; 18:148964-80244381; 18:148964-80252149; 18:149090-80234391; 18:149090-80254936; 18:163324-80247302; 18:163324-80247353; 18:14869206-80256240; 18:15380698-80258298; 18:20941325-66828561; 18:20960321-80234429; 18:20962120-74691446; 18:20968059-80196282; 18:20989763-80209986; 18:26046776-80257093; 18:32123106-80252149; 18:34299891-80256240; 18:35837253-80256240; 18:38286350-57415751; 18:38794729-65632804; 18:40367456-80256240; 18:42651393-80254946; 18:45350409-80256240; 18:46196805-80256240; 18:48094785-63749302; 18:49199412-80254946; 18:49928068-80256240; 18:50068130-80252149 po_P_gain_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00 po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv17955847; dbVar:nssv15150331; dbVar:nssv15155584; dbVar:nssv17969172; dbVar:nssv15138502; dbVar:nssv15132872; dbVar:nssv15134458; dbVar:nssv16208540; dbVar:nssv15131766; dbVar:nssv15136669 po_P_loss_coord : 18:1262334-55587520; 18:48651428-80256240; 18:49416058-80256240; 18:50130430-80256240; 18:51167160-80256240; 18:51190430-80252149; 18:51875429-55658999; 18:51934227-80256240; 18:52156900-65408762; 18:52421053-80254946 po_P_loss_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00 |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_gain_source : dbVar B_gain_coord : chr18:51363764-52839032 B_gain_AFmax : 0.01 B_loss_source : dbVar B_loss_coord : chr18:52406330-53175630 B_loss_AFmax : 0.01 po_B_gain_allG_source : . po_B_gain_allG_coord : . po_B_gain_someG_source : . po_B_gain_someG_coord : chr18:51363764-52839032 dbVar po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : chr18:52406330-53175630 dbVar |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : . Repeat_type_left : . Gap_left : . GC_content_left : 0.435 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : . Repeat_type_right : . Gap_right : . GC_content_right : 0.435 |
CHM13Samples_ID : CHM13 |
>68465081>68465083ID : >68465081>68465083 |
TREF : T |
TCAGTGTTTCTATTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTAT[...]ALT : TCAGTGTTTCTATTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTATACTCTAAGTTTTAGGGTACATGTGCACATTGTGCAGGTTAGTTACATATGTATACATGTGCCATGCTGGTGCGCTGCACCCACTAATGTGTCATCTAGCATTAGGTATATCTCCCAATGCTATCCCTCCCCCCTCCCCCCACCCCACCACAGTCCCCAGAGTGTGATATTCCCCTTCCTGTGTCCATGTGATCTCATTGTTCAATTCCCACCTATGAGTGAGAATATGCGGTGTTTGGTTTTTTGTTCTTGCGATAGTTTACTGAGAATGATGGTTTCCAATTTCATCCATGTCCCTACAAAGGACATGAACTCATCATTTTTTATGGCTGCATAGTATTCCATGGTGTATATGTGCCACATTTTCTTAATCCAGTCTATCATTGTTGGACATTTGGGTTGGTTCCAAGTCTTTGCTATTGTGAATAGTGCCG |
60QUAL : 60 |
.FILTER : . |
AC=1; AF=0.011236; AN=89; AT=>68465081>[...]INFO : AC=1; AF=0.011236; AN=89; AT=>68465081>68465083,>68465081>68465082>68465083; LV=0; NS=45; e=52571371; s=480; rC=LINE/L1 |
GTFORMAT : GT |
1CHM13 : 1 |
0|0HG00438 : 0|0 |
0|0HG00621 : 0|0 |
0|0HG00673 : 0|0 |
0|0HG00733 : 0|0 |
0|0HG00735 : 0|0 |
0|0HG00741 : 0|0 |
0|0HG01071 : 0|0 |
0|0HG01106 : 0|0 |
0|0HG01109 : 0|0 |
0|0HG01123 : 0|0 |
0|0HG01175 : 0|0 |
0|0HG01243 : 0|0 |
0|0HG01258 : 0|0 |
0|0HG01358 : 0|0 |
0|0HG01361 : 0|0 |
0|0HG01891 : 0|0 |
0|0HG01928 : 0|0 |
0|0HG01952 : 0|0 |
0|0HG01978 : 0|0 |
0|0HG02055 : 0|0 |
0|0HG02080 : 0|0 |
0|0HG02109 : 0|0 |
0|0HG02145 : 0|0 |
0|0HG02148 : 0|0 |
0|0HG02257 : 0|0 |
0|0HG02486 : 0|0 |
0|0HG02559 : 0|0 |
0|0HG02572 : 0|0 |
0|0HG02622 : 0|0 |
0|0HG02630 : 0|0 |
0|0HG02717 : 0|0 |
0|0HG02723 : 0|0 |
0|0HG02818 : 0|0 |
0|0HG02886 : 0|0 |
0|0HG03098 : 0|0 |
0|0HG03453 : 0|0 |
0|0HG03486 : 0|0 |
0|0HG03492 : 0|0 |
0|0HG03516 : 0|0 |
0|0HG03540 : 0|0 |
0|0HG03579 : 0|0 |
0|0NA18906 : 0|0 |
0|0NA20129 : 0|0 |
0|0NA21309 : 0|0 |
||
full=NAACMG_class : full=NA |
INSSV_type : INS SV_length : 480 |
splitAnnotation_mode : split |
DCCGene_name : DCC; LOEUF_bin : 1 GnomAD_pLI : 9.9448e-01 ExAC_pLI : 1.0000e+00 HI : . TS : . DDD_HI_percent : 1.44 ACMG : . ExAC_cnvZ : 0.608948223776361 ExAC_delZ : 0.686808371719195 ExAC_dupZ : 0.422606156903191 ExAC_synZ : -0.918640774398169 ExAC_misZ : 0.149129298898277 GenCC_disease : Kallmann syndrome; colorectal cancer; connective tissue disorder; esophageal cancer; familial congenital mirror movements; gaze palsy, familial horizontal, with progressive scoliosis, 2; mirror movements 1; mirror movements 1 and/or agenesis of the corpus callosum GenCC_moi : AD; AR GenCC_classification : Definitive; Limited; Moderate; No Known Disease Relationship; Strong; Supportive GenCC_pmid : 19720981; 20431009; 20431009[PMID]; 21242494; 24808016; 25644941; 25813273; 28250454; 28341853; 29202173[PMID]; 29366874 NCBI_gene_ID : 1630 |
intron1-intron1Location : intron1-intron1 CytoBand : q21.2 Location2 : CDS Tx : NM_005215 Tx_version : 4 Tx_start : 52340196 Tx_end : 53535899 Exon_count : 29 Overlapped_tx_length : 1 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 180682 Nearest_SS_type : 3' Intersect_start : 52571370 Intersect_end : 52571371 |
120470; OMIM_ID : 120470; OMIM_phenotype : Colorectal cancer, somatic, 114500 (3); Esophageal carcinoma, somatic, 133239 (3); Gaze palsy, familial horizontal, with progressive scoliosis, 2, 617542 (3) AR; Mirror movements 1 and/or agenesis of the corpus callosum, 157600 (3) AD; OMIM_inheritance : AD; AR OMIM_morbid : yes OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_gain_source : dbVar B_gain_coord : chr18:51363764-52839032 B_gain_AFmax : 0.01 B_loss_source : dbVar B_loss_coord : chr18:52406330-53175630 B_loss_AFmax : 0.01 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
CHM13Samples_ID : CHM13 |
>68465081>68465083ID : >68465081>68465083 |
TREF : T |
TCAGTGTTTCTATTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTAT[...]ALT : TCAGTGTTTCTATTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTATACTCTAAGTTTTAGGGTACATGTGCACATTGTGCAGGTTAGTTACATATGTATACATGTGCCATGCTGGTGCGCTGCACCCACTAATGTGTCATCTAGCATTAGGTATATCTCCCAATGCTATCCCTCCCCCCTCCCCCCACCCCACCACAGTCCCCAGAGTGTGATATTCCCCTTCCTGTGTCCATGTGATCTCATTGTTCAATTCCCACCTATGAGTGAGAATATGCGGTGTTTGGTTTTTTGTTCTTGCGATAGTTTACTGAGAATGATGGTTTCCAATTTCATCCATGTCCCTACAAAGGACATGAACTCATCATTTTTTATGGCTGCATAGTATTCCATGGTGTATATGTGCCACATTTTCTTAATCCAGTCTATCATTGTTGGACATTTGGGTTGGTTCCAAGTCTTTGCTATTGTGAATAGTGCCG |
60QUAL : 60 |
.FILTER : . |
AC=1; AF=0.011236; AN=89; AT=>68465081>[...]INFO : AC=1; AF=0.011236; AN=89; AT=>68465081>68465083,>68465081>68465082>68465083; LV=0; NS=45; e=52571371; s=480; rC=LINE/L1 |
GTFORMAT : GT |
1CHM13 : 1 |
0|0HG00438 : 0|0 |
0|0HG00621 : 0|0 |
0|0HG00673 : 0|0 |
0|0HG00733 : 0|0 |
0|0HG00735 : 0|0 |
0|0HG00741 : 0|0 |
0|0HG01071 : 0|0 |
0|0HG01106 : 0|0 |
0|0HG01109 : 0|0 |
0|0HG01123 : 0|0 |
0|0HG01175 : 0|0 |
0|0HG01243 : 0|0 |
0|0HG01258 : 0|0 |
0|0HG01358 : 0|0 |
0|0HG01361 : 0|0 |
0|0HG01891 : 0|0 |
0|0HG01928 : 0|0 |
0|0HG01952 : 0|0 |
0|0HG01978 : 0|0 |
0|0HG02055 : 0|0 |
0|0HG02080 : 0|0 |
0|0HG02109 : 0|0 |
0|0HG02145 : 0|0 |
0|0HG02148 : 0|0 |
0|0HG02257 : 0|0 |
0|0HG02486 : 0|0 |
0|0HG02559 : 0|0 |
0|0HG02572 : 0|0 |
0|0HG02622 : 0|0 |
0|0HG02630 : 0|0 |
0|0HG02717 : 0|0 |
0|0HG02723 : 0|0 |
0|0HG02818 : 0|0 |
0|0HG02886 : 0|0 |
0|0HG03098 : 0|0 |
0|0HG03453 : 0|0 |
0|0HG03486 : 0|0 |
0|0HG03492 : 0|0 |
0|0HG03516 : 0|0 |
0|0HG03540 : 0|0 |
0|0HG03579 : 0|0 |
0|0NA18906 : 0|0 |
0|0NA20129 : 0|0 |
0|0NA21309 : 0|0 |
|
NAACMG_class : NA AnnotSV_ranking_score : . AnnotSV_ranking_criteria : . |
INSSV_type : INS SV_length : 1394 Gene_count : 1 |
fullAnnotation_mode : full |
KCNH5Gene_name : KCNH5; LOEUF_bin : 2 GnomAD_pLI : 1.9692e-02 ExAC_pLI : 7.6905e-01 HI : . TS : . DDD_HI_percent : 10.41 ExAC_cnvZ : 1.14205654019599 ExAC_delZ : 0.517046667946064 ExAC_dupZ : 1.25350634603708 ExAC_synZ : -0.584183564959809 ExAC_misZ : 2.7763863861762 Closest_left : LOC105370528 Closest_right : LOC105370531 |
.Location : . CytoBand : q23.2 |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_gain_phen : . po_P_gain_hpo : . po_P_gain_source : dbVar:nssv15162475; dbVar:nssv15161908; dbVar:nssv15162476; dbVar:nssv15161629; dbVar:nssv15161107; nssv15161424; dbVar:nssv15161067; dbVar:nssv17976728; dbVar:nssv17517489; dbVar:nssv16255563 po_P_gain_coord : 14:18223946-106880863; 14:18504257-106879456; 14:18551347-106879456; 14:19652446-106826050; 14:20043515-106877229; 14:20151150-106855263; 14:37201854-106530013; 14:54187284-75361321; 14:60943139-65275892 po_P_gain_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00 po_P_loss_phen : Developmental and epileptic encephalopathy 112, 620537 (3) AD po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15146256; dbVar:nssv18329512; dbVar:nssv15147456; dbVar:nssv15132074; dbVar:nssv15134744; morbid:KCNH5 po_P_loss_coord : 14:57041037-67208231; 14:57338280-63123485; 14:57653414-64093528; 14:59917052-66750803; 14:62252701-65753416; 14:62779748-63045458 po_P_loss_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . B_loss_source : gnomAD-SV_v3_DEL_chr14_040215df; gnomAD-SV_v3_DEL_chr14_aa7bf92b B_loss_coord : chr14:41140072-69277618; chr14:56471274-99420950 B_loss_AFmax : 0.6330 po_B_gain_allG_source : . po_B_gain_allG_coord : . po_B_gain_someG_source : . po_B_gain_someG_coord : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : chr14:56471274-99420950 gnomAD-SV_v3_DEL_chr14_aa7bf92b po_B_loss_someG_coord : chr14:41140072-69277618 gnomAD-SV_v3_DEL_chr14_040215df |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 14:62881707-62881861 Repeat_type_left : MIRb Gap_left : . GC_content_left : 0.360 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 14:62881707-62881861 Repeat_type_right : MIRb Gap_right : . GC_content_right : 0.360 |
CHM13,HG00741Samples_ID : CHM13,HG00741 |
>58858300>58858298ID : >58858300>58858298 |
CREF : C |
CCAAAACAGAGATATAGATCAATGGAACAGAACAGAGCCCTCAGA[...]ALT : CCAAAACAGAGATATAGATCAATGGAACAGAACAGAGCCCTCAGAAATAATGCCGCATATCTACAACTATCTGATCTTTGACAAACCTGAGAAAAACAAGCAATGGGGAAAGGATTCCCTATTTAATAAATGGTGCTGGGAAAACTGGCTAGCCACATGTAGAAAGCTGAAACTGGATCCCTTCCTTACACCTTATACAAAAATCAATTCAAGATGGATTAAAGATTTAAACGTTAGACCTAAAACCATAAAAACCCTAGAAGAAAACCTAGGCATTACCATTCAGGACATAGGCGTGGGCAAGGACTTCATGTCCAAAACACCAAAAGCAATGGCAACAAAAGACAAAATTGACAAATGGGATCTAATTAAACTAAAGAGCTTCTGCACAGCAAAAGAAACTACCATCAGAGTGAACAGGCAACCTACAACATGGGAGAAAATTTTTGCAACCTACTCATCTGACAAAGGGCTAATATCCAGAATCTACAATGAACTCAAACAAATTTACAAGAAAAAAACAAACAACCCCATCAAAAAGTGGGCGAAGGACATGAACAGACACTTCTCAAAAGAAGACATTTATGCAGCCAAAAAACACATGAAGAAATGCTCATCATCACTGGCCATCAGAGAAATGCAAATCAAAACCACTATGAGATATCATCTCACACCAGTTAGAATGGCAATCATTAAAAAGTCAGGAAACAACAGGTGCCGGAGAGGATGCGGAGAAATAGGAACACTTTTACACTGTTGGTGGGACTGTAAACTAGTTCAACCATTGTGGAAGTCAGTGTGGCGATTCCTCAGGGATCTAGAACTAGAAATACCATTTGACCCAGCCATCCCATTACTGGGTATATACCCAAATGAGTATAAATCATGCTGCTATAAAGACACATGCACACGTATGTTTATTGCGGCACTATTCACAATAGCAAAGACTTGGAACCAACCCAAATGTCCAACAATGATAGACTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTATGCAGCCATAAAAAATGATGAGTTCATATCCTTTGTAGGGACATGGATGAAATTGGAAACCATCATTCTCAGTAAACTATCGCAAGAACAAAAAACCAAACACCGCATATTCTCACTCATAGGTGGGAATTGAACAATGAGATCACATGGACACAGGAAGGGGAATATCACACTCTGGGGACTGTGGTGGGGTCGGGGGAGGGGGGAGGGATAGCATTGGGAGATATACCTAATGCTAGATGACACATTAGTGGGTGCAGCGCACCAGCATGGCACATGTATACATATGTAACTAACCTGCACAATGTGCACATGTACCCTATAACTTAGAGTATAATAAAAAAAAAAAAAAGAAAGAAAAAAAAAAAAAAA |
60QUAL : 60 |
.FILTER : . |
AC=1; AF=0.011236; AN=89; AT=>58858300>[...]INFO : AC=1; AF=0.011236; AN=89; AT=>58858300>58858298,>58858300<58858299>58858298; LV=0; NS=45; e=62881760; s=1394; rC=LINE/L1 |
GTFORMAT : GT |
0CHM13 : 0 |
0|0HG00438 : 0|0 |
0|0HG00621 : 0|0 |
0|0HG00673 : 0|0 |
0|0HG00733 : 0|0 |
0|0HG00735 : 0|0 |
0|1HG00741 : 0|1 |
0|0HG01071 : 0|0 |
0|0HG01106 : 0|0 |
0|0HG01109 : 0|0 |
0|0HG01123 : 0|0 |
0|0HG01175 : 0|0 |
0|0HG01243 : 0|0 |
0|0HG01258 : 0|0 |
0|0HG01358 : 0|0 |
0|0HG01361 : 0|0 |
0|0HG01891 : 0|0 |
0|0HG01928 : 0|0 |
0|0HG01952 : 0|0 |
0|0HG01978 : 0|0 |
0|0HG02055 : 0|0 |
0|0HG02080 : 0|0 |
0|0HG02109 : 0|0 |
0|0HG02145 : 0|0 |
0|0HG02148 : 0|0 |
0|0HG02257 : 0|0 |
0|0HG02486 : 0|0 |
0|0HG02559 : 0|0 |
0|0HG02572 : 0|0 |
0|0HG02622 : 0|0 |
0|0HG02630 : 0|0 |
0|0HG02717 : 0|0 |
0|0HG02723 : 0|0 |
0|0HG02818 : 0|0 |
0|0HG02886 : 0|0 |
0|0HG03098 : 0|0 |
0|0HG03453 : 0|0 |
0|0HG03486 : 0|0 |
0|0HG03492 : 0|0 |
0|0HG03516 : 0|0 |
0|0HG03540 : 0|0 |
0|0HG03579 : 0|0 |
0|0NA18906 : 0|0 |
0|0NA20129 : 0|0 |
0|0NA21309 : 0|0 |
||
full=NAACMG_class : full=NA |
INSSV_type : INS SV_length : 1394 |
splitAnnotation_mode : split |
KCNH5Gene_name : KCNH5; LOEUF_bin : 2 GnomAD_pLI : 1.9692e-02 ExAC_pLI : 7.6905e-01 HI : . TS : . DDD_HI_percent : 10.41 ACMG : . ExAC_cnvZ : 1.14205654019599 ExAC_delZ : 0.517046667946064 ExAC_dupZ : 1.25350634603708 ExAC_synZ : -0.584183564959809 ExAC_misZ : 2.7763863861762 GenCC_disease : infantile-onset epilepsy GenCC_moi : AD GenCC_classification : Definitive GenCC_pmid : . NCBI_gene_ID : 27133 |
intron7-intron7Location : intron7-intron7 CytoBand : q23.2 Location2 : CDS Tx : NM_139318 Tx_version : 5 Tx_start : 62699463 Tx_end : 63045458 Exon_count : 11 Overlapped_tx_length : 1 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 31907 Nearest_SS_type : 3' Intersect_start : 62881759 Intersect_end : 62881760 |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . B_loss_source : gnomAD-SV_v3_DEL_chr14_040215df; gnomAD-SV_v3_DEL_chr14_aa7bf92b B_loss_coord : chr14:41140072-69277618; chr14:56471274-99420950 B_loss_AFmax : 0.6330 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
CHM13,HG00741Samples_ID : CHM13,HG00741 |
>58858300>58858298ID : >58858300>58858298 |
CREF : C |
CCAAAACAGAGATATAGATCAATGGAACAGAACAGAGCCCTCAGA[...]ALT : CCAAAACAGAGATATAGATCAATGGAACAGAACAGAGCCCTCAGAAATAATGCCGCATATCTACAACTATCTGATCTTTGACAAACCTGAGAAAAACAAGCAATGGGGAAAGGATTCCCTATTTAATAAATGGTGCTGGGAAAACTGGCTAGCCACATGTAGAAAGCTGAAACTGGATCCCTTCCTTACACCTTATACAAAAATCAATTCAAGATGGATTAAAGATTTAAACGTTAGACCTAAAACCATAAAAACCCTAGAAGAAAACCTAGGCATTACCATTCAGGACATAGGCGTGGGCAAGGACTTCATGTCCAAAACACCAAAAGCAATGGCAACAAAAGACAAAATTGACAAATGGGATCTAATTAAACTAAAGAGCTTCTGCACAGCAAAAGAAACTACCATCAGAGTGAACAGGCAACCTACAACATGGGAGAAAATTTTTGCAACCTACTCATCTGACAAAGGGCTAATATCCAGAATCTACAATGAACTCAAACAAATTTACAAGAAAAAAACAAACAACCCCATCAAAAAGTGGGCGAAGGACATGAACAGACACTTCTCAAAAGAAGACATTTATGCAGCCAAAAAACACATGAAGAAATGCTCATCATCACTGGCCATCAGAGAAATGCAAATCAAAACCACTATGAGATATCATCTCACACCAGTTAGAATGGCAATCATTAAAAAGTCAGGAAACAACAGGTGCCGGAGAGGATGCGGAGAAATAGGAACACTTTTACACTGTTGGTGGGACTGTAAACTAGTTCAACCATTGTGGAAGTCAGTGTGGCGATTCCTCAGGGATCTAGAACTAGAAATACCATTTGACCCAGCCATCCCATTACTGGGTATATACCCAAATGAGTATAAATCATGCTGCTATAAAGACACATGCACACGTATGTTTATTGCGGCACTATTCACAATAGCAAAGACTTGGAACCAACCCAAATGTCCAACAATGATAGACTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTATGCAGCCATAAAAAATGATGAGTTCATATCCTTTGTAGGGACATGGATGAAATTGGAAACCATCATTCTCAGTAAACTATCGCAAGAACAAAAAACCAAACACCGCATATTCTCACTCATAGGTGGGAATTGAACAATGAGATCACATGGACACAGGAAGGGGAATATCACACTCTGGGGACTGTGGTGGGGTCGGGGGAGGGGGGAGGGATAGCATTGGGAGATATACCTAATGCTAGATGACACATTAGTGGGTGCAGCGCACCAGCATGGCACATGTATACATATGTAACTAACCTGCACAATGTGCACATGTACCCTATAACTTAGAGTATAATAAAAAAAAAAAAAAGAAAGAAAAAAAAAAAAAAA |
60QUAL : 60 |
.FILTER : . |
AC=1; AF=0.011236; AN=89; AT=>58858300>[...]INFO : AC=1; AF=0.011236; AN=89; AT=>58858300>58858298,>58858300<58858299>58858298; LV=0; NS=45; e=62881760; s=1394; rC=LINE/L1 |
GTFORMAT : GT |
0CHM13 : 0 |
0|0HG00438 : 0|0 |
0|0HG00621 : 0|0 |
0|0HG00673 : 0|0 |
0|0HG00733 : 0|0 |
0|0HG00735 : 0|0 |
0|1HG00741 : 0|1 |
0|0HG01071 : 0|0 |
0|0HG01106 : 0|0 |
0|0HG01109 : 0|0 |
0|0HG01123 : 0|0 |
0|0HG01175 : 0|0 |
0|0HG01243 : 0|0 |
0|0HG01258 : 0|0 |
0|0HG01358 : 0|0 |
0|0HG01361 : 0|0 |
0|0HG01891 : 0|0 |
0|0HG01928 : 0|0 |
0|0HG01952 : 0|0 |
0|0HG01978 : 0|0 |
0|0HG02055 : 0|0 |
0|0HG02080 : 0|0 |
0|0HG02109 : 0|0 |
0|0HG02145 : 0|0 |
0|0HG02148 : 0|0 |
0|0HG02257 : 0|0 |
0|0HG02486 : 0|0 |
0|0HG02559 : 0|0 |
0|0HG02572 : 0|0 |
0|0HG02622 : 0|0 |
0|0HG02630 : 0|0 |
0|0HG02717 : 0|0 |
0|0HG02723 : 0|0 |
0|0HG02818 : 0|0 |
0|0HG02886 : 0|0 |
0|0HG03098 : 0|0 |
0|0HG03453 : 0|0 |
0|0HG03486 : 0|0 |
0|0HG03492 : 0|0 |
0|0HG03516 : 0|0 |
0|0HG03540 : 0|0 |
0|0HG03579 : 0|0 |
0|0NA18906 : 0|0 |
0|0NA20129 : 0|0 |
0|0NA21309 : 0|0 |
||
NAACMG_class : NA AnnotSV_ranking_score : . AnnotSV_ranking_criteria : . |
INSSV_type : INS SV_length : 364 Gene_count : 1 |
fullAnnotation_mode : full |
CITGene_name : CIT; LOEUF_bin : 0 GnomAD_pLI : 9.9970e-01 ExAC_pLI : 1.0000e+00 HI : . TS : . DDD_HI_percent : 9.65 ExAC_cnvZ : 1.00738639885524 ExAC_delZ : 1.1736013546943 ExAC_dupZ : 0.764781999253212 ExAC_synZ : 0.461846199204778 ExAC_misZ : 4.40981927361563 Closest_left : LOC124903033 Closest_right : MIR1178 |
.Location : . CytoBand : q24.23 |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_gain_phen : . po_P_gain_hpo : . po_P_gain_source : dbVar:nssv15161620; dbVar:nssv15161414; nssv15161422; dbVar:nssv15171852; dbVar:nssv15161798; dbVar:nssv15171855; dbVar:nssv15148260; dbVar:nssv15147181; dbVar:nssv17955871; dbVar:nssv17969563; dbVar:nssv15146204 po_P_gain_coord : 12:45741-133265309; 12:64622-133201316; 12:82454-133201059; 12:121272-133196807; 12:512055-133202532; 12:114268404-133201316; 12:115131584-133166920; 12:117024098-133264809; 12:118049038-120557579; 12:118165460-133182322 po_P_gain_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00 po_P_loss_phen : Microcephaly 17, primary, AR, 617090 (3) AR po_P_loss_hpo : . po_P_loss_source : morbid:CIT po_P_loss_coord : 12:119685791-119877320 po_P_loss_percent : 0.00 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_gain_allG_source : . po_B_gain_allG_coord : . po_B_gain_someG_source : . po_B_gain_someG_coord : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : . Repeat_type_left : . Gap_left : . GC_content_left : 0.410 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : . Repeat_type_right : . Gap_right : . GC_content_right : 0.410 |
CHM13,HG00733Samples_ID : CHM13,HG00733 |
>55020969>55020971ID : >55020969>55020971 |
CREF : C |
CGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAG[...]ALT : CGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGATGTGTCCAC |
60QUAL : 60 |
.FILTER : . |
AC=1; AF=0.011236; AN=89; AT=>55020969>[...]INFO : AC=1; AF=0.011236; AN=89; AT=>55020969>55020971,>55020969<55020970>55020971; LV=0; NS=45; e=119693044; s=364; rC=SINE/Alu |
GTFORMAT : GT |
0CHM13 : 0 |
0|0HG00438 : 0|0 |
0|0HG00621 : 0|0 |
0|0HG00673 : 0|0 |
0|1HG00733 : 0|1 |
0|0HG00735 : 0|0 |
0|0HG00741 : 0|0 |
0|0HG01071 : 0|0 |
0|0HG01106 : 0|0 |
0|0HG01109 : 0|0 |
0|0HG01123 : 0|0 |
0|0HG01175 : 0|0 |
0|0HG01243 : 0|0 |
0|0HG01258 : 0|0 |
0|0HG01358 : 0|0 |
0|0HG01361 : 0|0 |
0|0HG01891 : 0|0 |
0|0HG01928 : 0|0 |
0|0HG01952 : 0|0 |
0|0HG01978 : 0|0 |
0|0HG02055 : 0|0 |
0|0HG02080 : 0|0 |
0|0HG02109 : 0|0 |
0|0HG02145 : 0|0 |
0|0HG02148 : 0|0 |
0|0HG02257 : 0|0 |
0|0HG02486 : 0|0 |
0|0HG02559 : 0|0 |
0|0HG02572 : 0|0 |
0|0HG02622 : 0|0 |
0|0HG02630 : 0|0 |
0|0HG02717 : 0|0 |
0|0HG02723 : 0|0 |
0|0HG02818 : 0|0 |
0|0HG02886 : 0|0 |
0|0HG03098 : 0|0 |
0|0HG03453 : 0|0 |
0|0HG03486 : 0|0 |
0|0HG03492 : 0|0 |
0|0HG03516 : 0|0 |
0|0HG03540 : 0|0 |
0|0HG03579 : 0|0 |
0|0NA18906 : 0|0 |
0|0NA20129 : 0|0 |
0|0NA21309 : 0|0 |
||
full=NAACMG_class : full=NA |
INSSV_type : INS SV_length : 364 |
splitAnnotation_mode : split |
CITGene_name : CIT; LOEUF_bin : 0 GnomAD_pLI : 9.9970e-01 ExAC_pLI : 1.0000e+00 HI : . TS : . DDD_HI_percent : 9.65 ACMG : . ExAC_cnvZ : 1.00738639885524 ExAC_delZ : 1.1736013546943 ExAC_dupZ : 0.764781999253212 ExAC_synZ : 0.461846199204778 ExAC_misZ : 4.40981927361563 GenCC_disease : autosomal recessive primary microcephaly; microcephaly 11, primary, autosomal recessive; microcephaly 17, primary, autosomal recessive GenCC_moi : AR GenCC_classification : Moderate; Strong; Supportive GenCC_pmid : 27453578; 27453578[PMID]; 27453579; 27503289 NCBI_gene_ID : 11113 |
intron37-intron37Location : intron37-intron37 CytoBand : q24.23 Location2 : CDS Tx : XM_011537791 Tx_version : 3 Tx_start : 119685790 Tx_end : 119784845 Exon_count : 39 Overlapped_tx_length : 1 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 2589 Nearest_SS_type : 3' Intersect_start : 119693043 Intersect_end : 119693044 |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
CHM13,HG00733Samples_ID : CHM13,HG00733 |
>55020969>55020971ID : >55020969>55020971 |
CREF : C |
CGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAG[...]ALT : CGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGATGTGTCCAC |
60QUAL : 60 |
.FILTER : . |
AC=1; AF=0.011236; AN=89; AT=>55020969>[...]INFO : AC=1; AF=0.011236; AN=89; AT=>55020969>55020971,>55020969<55020970>55020971; LV=0; NS=45; e=119693044; s=364; rC=SINE/Alu |
GTFORMAT : GT |
0CHM13 : 0 |
0|0HG00438 : 0|0 |
0|0HG00621 : 0|0 |
0|0HG00673 : 0|0 |
0|1HG00733 : 0|1 |
0|0HG00735 : 0|0 |
0|0HG00741 : 0|0 |
0|0HG01071 : 0|0 |
0|0HG01106 : 0|0 |
0|0HG01109 : 0|0 |
0|0HG01123 : 0|0 |
0|0HG01175 : 0|0 |
0|0HG01243 : 0|0 |
0|0HG01258 : 0|0 |
0|0HG01358 : 0|0 |
0|0HG01361 : 0|0 |
0|0HG01891 : 0|0 |
0|0HG01928 : 0|0 |
0|0HG01952 : 0|0 |
0|0HG01978 : 0|0 |
0|0HG02055 : 0|0 |
0|0HG02080 : 0|0 |
0|0HG02109 : 0|0 |
0|0HG02145 : 0|0 |
0|0HG02148 : 0|0 |
0|0HG02257 : 0|0 |
0|0HG02486 : 0|0 |
0|0HG02559 : 0|0 |
0|0HG02572 : 0|0 |
0|0HG02622 : 0|0 |
0|0HG02630 : 0|0 |
0|0HG02717 : 0|0 |
0|0HG02723 : 0|0 |
0|0HG02818 : 0|0 |
0|0HG02886 : 0|0 |
0|0HG03098 : 0|0 |
0|0HG03453 : 0|0 |
0|0HG03486 : 0|0 |
0|0HG03492 : 0|0 |
0|0HG03516 : 0|0 |
0|0HG03540 : 0|0 |
0|0HG03579 : 0|0 |
0|0NA18906 : 0|0 |
0|0NA20129 : 0|0 |
0|0NA21309 : 0|0 |
||
NAACMG_class : NA AnnotSV_ranking_score : . AnnotSV_ranking_criteria : . |
INSSV_type : INS SV_length : 315 Gene_count : 1 |
fullAnnotation_mode : full |
CNOT2Gene_name : CNOT2; LOEUF_bin : 0 GnomAD_pLI : 9.9981e-01 ExAC_pLI : 9.9987e-01 HI : 1 TS : . DDD_HI_percent : 4.39 ExAC_cnvZ : 0.478829454903821 ExAC_delZ : 1.09825948406245 ExAC_dupZ : 0.0421341328539237 ExAC_synZ : 1.46995640932789 ExAC_misZ : 3.67134252802436 Closest_left : PRANCR Closest_right : KCNMB4 |
.Location : . CytoBand : q15 |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_gain_phen : . po_P_gain_hpo : . po_P_gain_source : dbVar:nssv15161620; dbVar:nssv15161414; nssv15161422; dbVar:nssv15171852; dbVar:nssv15161798; dbVar:nssv15171855 po_P_gain_coord : 12:45741-133265309; 12:64622-133201316; 12:82454-133201059; 12:121272-133196807; 12:512055-133202532 po_P_gain_percent : 0.00; 0.00; 0.00; 0.00; 0.00 po_P_loss_phen : Intellectual developmental disorder with nasal speech, dysmorphic facies, and variable skeletal anomalies, 618608 (3) AD po_P_loss_hpo : . po_P_loss_source : dbVar:nssv17649865; dbVar:nssv15146017; dbVar:nssv15147301; dbVar:nssv16255452; dbVar:nssv15157811; dbVar:nssv17957078; dbVar:nssv15147333; dbVar:nssv15145770; dbVar:nssv15146233; dbVar:nssv15150216; dbVar:nssv15147808; morbid:CNOT2; dbVar:nssv17955483 po_P_loss_coord : 12:64857926-74869599; 12:65445177-71026337; 12:68011418-75383054; 12:68178607-70440088; 12:69214311-89235568; 12:69690697-76671984; 12:69769738-76964217; 12:70029315-70599455; 12:70051306-71116195; 12:70181697-72950879; 12:70194956-70973089; 12:70278132-70354993; 12:70278538-70363561 po_P_loss_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_gain_allG_source : . po_B_gain_allG_coord : . po_B_gain_someG_source : . po_B_gain_someG_coord : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : . Repeat_type_left : . Gap_left : . GC_content_left : 0.410 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : . Repeat_type_right : . Gap_right : . GC_content_right : 0.405 |
CHM13,HG02055Samples_ID : CHM13,HG02055 |
>53885903>53885905ID : >53885903>53885905 |
GREF : G |
GGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGA[...]ALT : GGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAGAAAGGGAGTTTG |
60QUAL : 60 |
.FILTER : . |
AC=1; AF=0.011236; AN=89; AT=>53885903>[...]INFO : AC=1; AF=0.011236; AN=89; AT=>53885903>53885905,>53885903<53885904>53885905; LV=0; NS=45; e=70321807; s=315; rC=SINE/Alu |
GTFORMAT : GT |
0CHM13 : 0 |
0|0HG00438 : 0|0 |
0|0HG00621 : 0|0 |
0|0HG00673 : 0|0 |
0|0HG00733 : 0|0 |
0|0HG00735 : 0|0 |
0|0HG00741 : 0|0 |
0|0HG01071 : 0|0 |
0|0HG01106 : 0|0 |
0|0HG01109 : 0|0 |
0|0HG01123 : 0|0 |
0|0HG01175 : 0|0 |
0|0HG01243 : 0|0 |
0|0HG01258 : 0|0 |
0|0HG01358 : 0|0 |
0|0HG01361 : 0|0 |
0|0HG01891 : 0|0 |
0|0HG01928 : 0|0 |
0|0HG01952 : 0|0 |
0|0HG01978 : 0|0 |
1|0HG02055 : 1|0 |
0|0HG02080 : 0|0 |
0|0HG02109 : 0|0 |
0|0HG02145 : 0|0 |
0|0HG02148 : 0|0 |
0|0HG02257 : 0|0 |
0|0HG02486 : 0|0 |
0|0HG02559 : 0|0 |
0|0HG02572 : 0|0 |
0|0HG02622 : 0|0 |
0|0HG02630 : 0|0 |
0|0HG02717 : 0|0 |
0|0HG02723 : 0|0 |
0|0HG02818 : 0|0 |
0|0HG02886 : 0|0 |
0|0HG03098 : 0|0 |
0|0HG03453 : 0|0 |
0|0HG03486 : 0|0 |
0|0HG03492 : 0|0 |
0|0HG03516 : 0|0 |
0|0HG03540 : 0|0 |
0|0HG03579 : 0|0 |
0|0NA18906 : 0|0 |
0|0NA20129 : 0|0 |
0|0NA21309 : 0|0 |
||
full=NAACMG_class : full=NA |
INSSV_type : INS SV_length : 315 |
splitAnnotation_mode : split |
CNOT2Gene_name : CNOT2; LOEUF_bin : 0 GnomAD_pLI : 9.9981e-01 ExAC_pLI : 9.9987e-01 HI : 1 TS : 0 DDD_HI_percent : 4.39 ACMG : . ExAC_cnvZ : 0.478829454903821 ExAC_delZ : 1.09825948406245 ExAC_dupZ : 0.0421341328539237 ExAC_synZ : 1.46995640932789 ExAC_misZ : 3.67134252802436 GenCC_disease : intellectual developmental disorder with nasal speech, dysmorphic facies, and variable skeletal anomalies GenCC_moi : AD GenCC_classification : Strong GenCC_pmid : 28191890; 30768759; 31145527; 31512373; 36224108 NCBI_gene_ID : 4848 |
intron5-intron5Location : intron5-intron5 CytoBand : q15 Location2 : CDS Tx : NM_001199302 Tx_version : 2 Tx_start : 70243017 Tx_end : 70354993 Exon_count : 17 Overlapped_tx_length : 1 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 2442 Nearest_SS_type : 5' Intersect_start : 70321806 Intersect_end : 70321807 |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
CHM13,HG02055Samples_ID : CHM13,HG02055 |
>53885903>53885905ID : >53885903>53885905 |
GREF : G |
GGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGA[...]ALT : GGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAGAAAGGGAGTTTG |
60QUAL : 60 |
.FILTER : . |
AC=1; AF=0.011236; AN=89; AT=>53885903>[...]INFO : AC=1; AF=0.011236; AN=89; AT=>53885903>53885905,>53885903<53885904>53885905; LV=0; NS=45; e=70321807; s=315; rC=SINE/Alu |
GTFORMAT : GT |
0CHM13 : 0 |
0|0HG00438 : 0|0 |
0|0HG00621 : 0|0 |
0|0HG00673 : 0|0 |
0|0HG00733 : 0|0 |
0|0HG00735 : 0|0 |
0|0HG00741 : 0|0 |
0|0HG01071 : 0|0 |
0|0HG01106 : 0|0 |
0|0HG01109 : 0|0 |
0|0HG01123 : 0|0 |
0|0HG01175 : 0|0 |
0|0HG01243 : 0|0 |
0|0HG01258 : 0|0 |
0|0HG01358 : 0|0 |
0|0HG01361 : 0|0 |
0|0HG01891 : 0|0 |
0|0HG01928 : 0|0 |
0|0HG01952 : 0|0 |
0|0HG01978 : 0|0 |
1|0HG02055 : 1|0 |
0|0HG02080 : 0|0 |
0|0HG02109 : 0|0 |
0|0HG02145 : 0|0 |
0|0HG02148 : 0|0 |
0|0HG02257 : 0|0 |
0|0HG02486 : 0|0 |
0|0HG02559 : 0|0 |
0|0HG02572 : 0|0 |
0|0HG02622 : 0|0 |
0|0HG02630 : 0|0 |
0|0HG02717 : 0|0 |
0|0HG02723 : 0|0 |
0|0HG02818 : 0|0 |
0|0HG02886 : 0|0 |
0|0HG03098 : 0|0 |
0|0HG03453 : 0|0 |
0|0HG03486 : 0|0 |
0|0HG03492 : 0|0 |
0|0HG03516 : 0|0 |
0|0HG03540 : 0|0 |
0|0HG03579 : 0|0 |
0|0NA18906 : 0|0 |
0|0NA20129 : 0|0 |
0|0NA21309 : 0|0 |
||
NAACMG_class : NA AnnotSV_ranking_score : . AnnotSV_ranking_criteria : . |
INSSV_type : INS SV_length : 1078 Gene_count : 1 |
fullAnnotation_mode : full |
PPP2R1BGene_name : PPP2R1B; LOEUF_bin : 5 GnomAD_pLI : 3.0047e-15 ExAC_pLI : 2.1883e-07 HI : . TS : . DDD_HI_percent : 17.77 ExAC_cnvZ : -0.735293099682741 ExAC_delZ : -0.0570158045065236 ExAC_dupZ : -1.02263029760554 ExAC_synZ : 0.939472163892957 ExAC_misZ : 0.566132374981519 Closest_left : SIK2 Closest_right : ALG9 |
.Location : . CytoBand : q23.1 |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
ALG9 (morbid/RE=EA_enhancer); BTG4 (morbid/RE[...]RE_gene : ALG9 (morbid/RE=EA_enhancer); BTG4 (morbid/RE=EA_enhancer); SDHD (HI=3/morbid/RE=EA_enhancer); CRYAB (morbid/RE=EA_enhancer+GH_enhancer); PTS (morbid/RE=EA_enhancer); DLAT (morbid/RE=EA_enhancer); |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_gain_phen : . po_P_gain_hpo : . po_P_gain_source : dbVar:nssv15171978; dbVar:nssv15158476; dbVar:nssv15150306; nssv15150623; dbVar:nssv17976763; dbVar:nssv15153881; dbVar:nssv15146478; dbVar:nssv17955616; dbVar:nssv15127200 po_P_gain_coord : 11:70865-135068576; 11:198511-135064169; 11:230617-135068576; 11:32777936-135068576; 11:71877760-116810202; 11:100348600-135040246; 11:104418237-135067522; 11:106596869-114009007 po_P_gain_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00 po_P_loss_phen : Lung cancer, somatic, 211980 (3) po_P_loss_hpo : . po_P_loss_source : dbVar:nssv16867095; dbVar:nssv15157249; dbVar:nssv15125487; dbVar:nssv17173306; dbVar:nssv16208314; dbVar:nssv15776162; dbVar:nssv16208316; dbVar:nssv18330287; dbVar:nssv18789545; dbVar:nssv18789543; dbVar:nssv16213755; morbid:PPP2R1B po_P_loss_coord : 11:11814023-118502397; 11:80342411-113445514; 11:88423396-114620616; 11:94420120-112094976; 11:103449338-114479065; 11:104230684-116810202; 11:105828874-114654154; 11:109458062-116544249; 11:111300985-112087983; 11:111300985-112089021; 11:111300985-112094970; 11:111737877-111766389 po_P_loss_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_gain_allG_source : . po_B_gain_allG_coord : . po_B_gain_someG_source : . po_B_gain_someG_coord : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 11:111746201-111746659 Repeat_type_left : L1PA8 Gap_left : . GC_content_left : 0.350 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 11:111746201-111746659 Repeat_type_right : L1PA8 Gap_right : . GC_content_right : 0.350 |
CHM13,HG00733Samples_ID : CHM13,HG00733 |
>50208867>50208869ID : >50208867>50208869 |
CREF : C |
CTGCACAGCAAAAGAAACTACCATCAGAGTGAACAGGCAACCTAC[...]ALT : CTGCACAGCAAAAGAAACTACCATCAGAGTGAACAGGCAACCTACAACATGGGAGAAAATTTTTGCAACCTACTCATCTGACAAAGGGCTAATATCCAGAATCTACAATGAACTCAAACAAATTTACAAGAAAAAAACAAACAACCCCATCAAAAAGTGGGCGAAGGACATGAACAGACACTTCTCAAAAGAAGACATTTATGCAGCCAAAAAACACATGAAGAAATGCTCATCATCACTGGCCATCAGAGAAATGCAAATCAAAACCACTATGAGATATCATCTCACACCAGTTAGAATGGCAATCATTAAAAAGTCAGGAAACAACAGGTGCTGGAGAGGATGTGGAGAAATAGGAACACTTTTACACTGTTGGTGGGACTGTAAACTAGTTCAACCATTGTGGAAGTCAGTGTGGCGATTCCTCAGGGATCTAGATCTAGAAATACCATTTGACCCAGCCATCCCATTACTGGGTATATACCCAAATGAGTATAAATCATGCTGCTATAAAGACACATGCACACGTATGTTTATTGCAGCACTATTCACAATAGCAAAGACTTGGAACCAACCCAAATGCCCAACAATGATAGACTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTATGCAGCCATAAAAAATGATGAGTTCATATCCTTTGTAGGGACATGGATGAAATTGGAAACCATCATTCTCAGTAAACTATCGCAAGAACAAAAAACCAAACACCGCATATTCTCACTCATAGGTGGGAATTGAACAATGAGATCACATGGACACAGGAAGGGGAATATCACACTCTGGGGACTGTGGTGGGGTCGGGGGAGGGGGGAGGGATAGCATTGGGAGATATACCTAATGCTAGATGACACATTAGTGGGTGCAGTGCACCAGCATGGCACATGTATACATATGTAACTAACCTGCACAATGTGCACATGTACCCTAAAACTTAGAGTATAATAAAAAAAAAAAAAAAAAAGAATTGTAAAAAAAAAAATTATAAATAAAACAAAGAAGAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAATGACTTGAGGCC |
60QUAL : 60 |
.FILTER : . |
AC=1; AF=0.011236; AN=89; AT=>50208867>[...]INFO : AC=1; AF=0.011236; AN=89; AT=>50208867>50208869,>50208867>50208868>50208869; LV=0; NS=45; e=111746218; s=1078; rC=LINE/L1 |
GTFORMAT : GT |
0CHM13 : 0 |
0|0HG00438 : 0|0 |
0|0HG00621 : 0|0 |
0|0HG00673 : 0|0 |
0|1HG00733 : 0|1 |
0|0HG00735 : 0|0 |
0|0HG00741 : 0|0 |
0|0HG01071 : 0|0 |
0|0HG01106 : 0|0 |
0|0HG01109 : 0|0 |
0|0HG01123 : 0|0 |
0|0HG01175 : 0|0 |
0|0HG01243 : 0|0 |
0|0HG01258 : 0|0 |
0|0HG01358 : 0|0 |
0|0HG01361 : 0|0 |
0|0HG01891 : 0|0 |
0|0HG01928 : 0|0 |
0|0HG01952 : 0|0 |
0|0HG01978 : 0|0 |
0|0HG02055 : 0|0 |
0|0HG02080 : 0|0 |
0|0HG02109 : 0|0 |
0|0HG02145 : 0|0 |
0|0HG02148 : 0|0 |
0|0HG02257 : 0|0 |
0|0HG02486 : 0|0 |
0|0HG02559 : 0|0 |
0|0HG02572 : 0|0 |
0|0HG02622 : 0|0 |
0|0HG02630 : 0|0 |
0|0HG02717 : 0|0 |
0|0HG02723 : 0|0 |
0|0HG02818 : 0|0 |
0|0HG02886 : 0|0 |
0|0HG03098 : 0|0 |
0|0HG03453 : 0|0 |
0|0HG03486 : 0|0 |
0|0HG03492 : 0|0 |
0|0HG03516 : 0|0 |
0|0HG03540 : 0|0 |
0|0HG03579 : 0|0 |
0|0NA18906 : 0|0 |
0|0NA20129 : 0|0 |
0|0NA21309 : 0|0 |
||
full=NAACMG_class : full=NA |
INSSV_type : INS SV_length : 1078 |
splitAnnotation_mode : split |
PPP2R1BGene_name : PPP2R1B; LOEUF_bin : 5 GnomAD_pLI : 3.0047e-15 ExAC_pLI : 2.1883e-07 HI : . TS : . DDD_HI_percent : 17.77 ACMG : . ExAC_cnvZ : -0.735293099682741 ExAC_delZ : -0.0570158045065236 ExAC_dupZ : -1.02263029760554 ExAC_synZ : 0.939472163892957 ExAC_misZ : 0.566132374981519 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 5519 |
intron10-intron10Location : intron10-intron10 CytoBand : q23.1 Location2 : CDS Tx : XM_024448600 Tx_version : 2 Tx_start : 111687999 Tx_end : 111766389 Exon_count : 16 Overlapped_tx_length : 1 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 1735 Nearest_SS_type : 5' Intersect_start : 111746217 Intersect_end : 111746218 |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
CHM13,HG00733Samples_ID : CHM13,HG00733 |
>50208867>50208869ID : >50208867>50208869 |
CREF : C |
CTGCACAGCAAAAGAAACTACCATCAGAGTGAACAGGCAACCTAC[...]ALT : CTGCACAGCAAAAGAAACTACCATCAGAGTGAACAGGCAACCTACAACATGGGAGAAAATTTTTGCAACCTACTCATCTGACAAAGGGCTAATATCCAGAATCTACAATGAACTCAAACAAATTTACAAGAAAAAAACAAACAACCCCATCAAAAAGTGGGCGAAGGACATGAACAGACACTTCTCAAAAGAAGACATTTATGCAGCCAAAAAACACATGAAGAAATGCTCATCATCACTGGCCATCAGAGAAATGCAAATCAAAACCACTATGAGATATCATCTCACACCAGTTAGAATGGCAATCATTAAAAAGTCAGGAAACAACAGGTGCTGGAGAGGATGTGGAGAAATAGGAACACTTTTACACTGTTGGTGGGACTGTAAACTAGTTCAACCATTGTGGAAGTCAGTGTGGCGATTCCTCAGGGATCTAGATCTAGAAATACCATTTGACCCAGCCATCCCATTACTGGGTATATACCCAAATGAGTATAAATCATGCTGCTATAAAGACACATGCACACGTATGTTTATTGCAGCACTATTCACAATAGCAAAGACTTGGAACCAACCCAAATGCCCAACAATGATAGACTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTATGCAGCCATAAAAAATGATGAGTTCATATCCTTTGTAGGGACATGGATGAAATTGGAAACCATCATTCTCAGTAAACTATCGCAAGAACAAAAAACCAAACACCGCATATTCTCACTCATAGGTGGGAATTGAACAATGAGATCACATGGACACAGGAAGGGGAATATCACACTCTGGGGACTGTGGTGGGGTCGGGGGAGGGGGGAGGGATAGCATTGGGAGATATACCTAATGCTAGATGACACATTAGTGGGTGCAGTGCACCAGCATGGCACATGTATACATATGTAACTAACCTGCACAATGTGCACATGTACCCTAAAACTTAGAGTATAATAAAAAAAAAAAAAAAAAAGAATTGTAAAAAAAAAAATTATAAATAAAACAAAGAAGAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAATGACTTGAGGCC |
60QUAL : 60 |
.FILTER : . |
AC=1; AF=0.011236; AN=89; AT=>50208867>[...]INFO : AC=1; AF=0.011236; AN=89; AT=>50208867>50208869,>50208867>50208868>50208869; LV=0; NS=45; e=111746218; s=1078; rC=LINE/L1 |
GTFORMAT : GT |
0CHM13 : 0 |
0|0HG00438 : 0|0 |
0|0HG00621 : 0|0 |
0|0HG00673 : 0|0 |
0|1HG00733 : 0|1 |
0|0HG00735 : 0|0 |
0|0HG00741 : 0|0 |
0|0HG01071 : 0|0 |
0|0HG01106 : 0|0 |
0|0HG01109 : 0|0 |
0|0HG01123 : 0|0 |
0|0HG01175 : 0|0 |
0|0HG01243 : 0|0 |
0|0HG01258 : 0|0 |
0|0HG01358 : 0|0 |
0|0HG01361 : 0|0 |
0|0HG01891 : 0|0 |
0|0HG01928 : 0|0 |
0|0HG01952 : 0|0 |
0|0HG01978 : 0|0 |
0|0HG02055 : 0|0 |
0|0HG02080 : 0|0 |
0|0HG02109 : 0|0 |
0|0HG02145 : 0|0 |
0|0HG02148 : 0|0 |
0|0HG02257 : 0|0 |
0|0HG02486 : 0|0 |
0|0HG02559 : 0|0 |
0|0HG02572 : 0|0 |
0|0HG02622 : 0|0 |
0|0HG02630 : 0|0 |
0|0HG02717 : 0|0 |
0|0HG02723 : 0|0 |
0|0HG02818 : 0|0 |
0|0HG02886 : 0|0 |
0|0HG03098 : 0|0 |
0|0HG03453 : 0|0 |
0|0HG03486 : 0|0 |
0|0HG03492 : 0|0 |
0|0HG03516 : 0|0 |
0|0HG03540 : 0|0 |
0|0HG03579 : 0|0 |
0|0NA18906 : 0|0 |
0|0NA20129 : 0|0 |
0|0NA21309 : 0|0 |
||
NAACMG_class : NA AnnotSV_ranking_score : . AnnotSV_ranking_criteria : . |
INSSV_type : INS SV_length : 321 Gene_count : 1 |
fullAnnotation_mode : full |
KAT6AGene_name : KAT6A; LOEUF_bin : 0 GnomAD_pLI : 1.0000e+00 ExAC_pLI : 1.0000e+00 HI : 3 TS : . DDD_HI_percent : . ExAC_cnvZ : 0.702709843958985 ExAC_delZ : 1.09040842311785 ExAC_dupZ : 0.315293016883196 ExAC_synZ : -0.112462969274603 ExAC_misZ : 2.19042376439798 Closest_left : LOC105379392 Closest_right : LOC124900271 |
.Location : . CytoBand : p11.21 |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_gain_phen : . po_P_gain_hpo : . po_P_gain_source : dbVar:nssv15169207; dbVar:nssv15128680; dbVar:nssv15161801; nssv15777239; nssv17976962; dbVar:nssv15161417; nssv15161657; dbVar:nssv15161846; dbVar:nssv15127651; dbVar:nssv15169210; dbVar:nssv15161105; dbVar:nssv16736635; dbVar:nssv15161269; dbVar:nssv15161748; dbVar:nssv15161087; dbVar:nssv15149889; dbVar:nssv15147361; dbVar:nssv15147299; dbVar:nssv15146164; nssv15148289; dbVar:nssv15146540; dbVar:nssv15147311; dbVar:nssv15161426; dbVar:nssv15145944; dbVar:nssv15149649; dbVar:nssv15145668; nssv15148288; dbVar:nssv15146476; dbVar:nssv15146477; dbVar:nssv15161357; dbVar:nssv15132076; dbVar:nssv15132643; dbVar:nssv15777249; dbVar:nssv15128918; dbVar:nssv15147495; dbVar:nssv18842077; dbVar:nssv15121963; dbVar:nssv15774700; dbVar:nssv15119924; dbVar:nssv15138444; dbVar:nssv15119925; dbVar:nssv15140401; dbVar:nssv15121964 po_P_gain_coord : 8:60214-145068028; 8:63939-145078636; 8:208049-145070385; 8:208050-145070385; 8:208992-145055442; 8:213683-46027320; 8:214985-145068028; 8:226453-145068712; 8:226815-43541633; 8:241531-145049449; 8:241531-145054634; 8:241606-145054781; 8:12077515-43968892; 8:12182422-43673207; 8:12383585-43673207; 8:12609976-42085703; 8:12609976-43336172; 8:12609976-43673207; 8:12633491-145070385; 8:12646124-43686843; 8:12722624-43533090; 8:12728905-43673207; 8:12750797-43532444; 8:14940111-47929925; 8:21291523-145070385; 8:25832131-48521849; 8:29719898-48521849; 8:32079036-145070385; 8:33987548-46027320; 8:36580104-59618998; 8:36905659-50017147; 8:37899431-42371734; 8:39698139-63136530; 8:39830634-49209461; 8:39960532-43673207; 8:39981425-43532444; 8:40832680-43533090; 8:41845700-47893948 po_P_gain_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00 po_P_loss_phen : Arboleda-Tham syndrome, 616268 (3) AD po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15132279; dbVar:nssv15125997; dbVar:nssv15772817; HI3:KAT6A; morbid:KAT6A po_P_loss_coord : 8:34312251-43158901; 8:37451936-46027320; 8:41904296-42249590; 8:41929480-42051987; 8:41942049-42051987 po_P_loss_percent : 0.00; 0.00; 0.00; 0.00; 0.00 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_gain_allG_source : . po_B_gain_allG_coord : . po_B_gain_someG_source : . po_B_gain_someG_coord : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : . Repeat_type_left : . Gap_left : . GC_content_left : 0.310 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : . Repeat_type_right : . Gap_right : . GC_content_right : 0.315 |
CHM13,HG02572Samples_ID : CHM13,HG02572 |
>38258440>38258442ID : >38258440>38258442 |
TREF : T |
TCTACAAGCTGATTTCTTTTTTTTTTTTTTTTTTTTTTTTTTGAG[...]ALT : TCTACAAGCTGATTTCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGC |
60QUAL : 60 |
.FILTER : . |
AC=1; AF=0.011236; AN=89; AT=>38258440>[...]INFO : AC=1; AF=0.011236; AN=89; AT=>38258440>38258442,>38258440>38258441>38258442; LV=0; NS=45; e=41993998; s=321; rC=SINE/Alu |
GTFORMAT : GT |
0CHM13 : 0 |
0|0HG00438 : 0|0 |
0|0HG00621 : 0|0 |
0|0HG00673 : 0|0 |
0|0HG00733 : 0|0 |
0|0HG00735 : 0|0 |
0|0HG00741 : 0|0 |
0|0HG01071 : 0|0 |
0|0HG01106 : 0|0 |
0|0HG01109 : 0|0 |
0|0HG01123 : 0|0 |
0|0HG01175 : 0|0 |
0|0HG01243 : 0|0 |
0|0HG01258 : 0|0 |
0|0HG01358 : 0|0 |
0|0HG01361 : 0|0 |
0|0HG01891 : 0|0 |
0|0HG01928 : 0|0 |
0|0HG01952 : 0|0 |
0|0HG01978 : 0|0 |
0|0HG02055 : 0|0 |
0|0HG02080 : 0|0 |
0|0HG02109 : 0|0 |
0|0HG02145 : 0|0 |
0|0HG02148 : 0|0 |
0|0HG02257 : 0|0 |
0|0HG02486 : 0|0 |
0|0HG02559 : 0|0 |
1|0HG02572 : 1|0 |
0|0HG02622 : 0|0 |
0|0HG02630 : 0|0 |
0|0HG02717 : 0|0 |
0|0HG02723 : 0|0 |
0|0HG02818 : 0|0 |
0|0HG02886 : 0|0 |
0|0HG03098 : 0|0 |
0|0HG03453 : 0|0 |
0|0HG03486 : 0|0 |
0|0HG03492 : 0|0 |
0|0HG03516 : 0|0 |
0|0HG03540 : 0|0 |
0|0HG03579 : 0|0 |
0|0NA18906 : 0|0 |
0|0NA20129 : 0|0 |
0|0NA21309 : 0|0 |
||
full=NAACMG_class : full=NA |
INSSV_type : INS SV_length : 321 |
splitAnnotation_mode : split |
KAT6AGene_name : KAT6A; LOEUF_bin : 0 GnomAD_pLI : 1.0000e+00 ExAC_pLI : 1.0000e+00 HI : 3 TS : 0 DDD_HI_percent : 19 ACMG : . ExAC_cnvZ : 0.702709843958985 ExAC_delZ : 1.09040842311785 ExAC_dupZ : 0.315293016883196 ExAC_synZ : -0.112462969274603 ExAC_misZ : 2.19042376439798 GenCC_disease : autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome; syndromic intellectual disability GenCC_moi : AD GenCC_classification : Definitive; Strong; Supportive GenCC_pmid : 16651658; 22921202; 25728775; 25728775[PMID]_25728777[PMID]; 25728777; 27133397; 29899504; 30245513; 30775047; 31754438; 32041641; 35892268 NCBI_gene_ID : 7994 |
intron2-intron2Location : intron2-intron2 CytoBand : p11.21 Location2 : CDS Tx : NM_006766 Tx_version : 5 Tx_start : 41929478 Tx_end : 42051987 Exon_count : 17 Overlapped_tx_length : 1 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 6434 Nearest_SS_type : 3' Intersect_start : 41993997 Intersect_end : 41993998 |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
CHM13,HG02572Samples_ID : CHM13,HG02572 |
>38258440>38258442ID : >38258440>38258442 |
TREF : T |
TCTACAAGCTGATTTCTTTTTTTTTTTTTTTTTTTTTTTTTTGAG[...]ALT : TCTACAAGCTGATTTCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGC |
60QUAL : 60 |
.FILTER : . |
AC=1; AF=0.011236; AN=89; AT=>38258440>[...]INFO : AC=1; AF=0.011236; AN=89; AT=>38258440>38258442,>38258440>38258441>38258442; LV=0; NS=45; e=41993998; s=321; rC=SINE/Alu |
GTFORMAT : GT |
0CHM13 : 0 |
0|0HG00438 : 0|0 |
0|0HG00621 : 0|0 |
0|0HG00673 : 0|0 |
0|0HG00733 : 0|0 |
0|0HG00735 : 0|0 |
0|0HG00741 : 0|0 |
0|0HG01071 : 0|0 |
0|0HG01106 : 0|0 |
0|0HG01109 : 0|0 |
0|0HG01123 : 0|0 |
0|0HG01175 : 0|0 |
0|0HG01243 : 0|0 |
0|0HG01258 : 0|0 |
0|0HG01358 : 0|0 |
0|0HG01361 : 0|0 |
0|0HG01891 : 0|0 |
0|0HG01928 : 0|0 |
0|0HG01952 : 0|0 |
0|0HG01978 : 0|0 |
0|0HG02055 : 0|0 |
0|0HG02080 : 0|0 |
0|0HG02109 : 0|0 |
0|0HG02145 : 0|0 |
0|0HG02148 : 0|0 |
0|0HG02257 : 0|0 |
0|0HG02486 : 0|0 |
0|0HG02559 : 0|0 |
1|0HG02572 : 1|0 |
0|0HG02622 : 0|0 |
0|0HG02630 : 0|0 |
0|0HG02717 : 0|0 |
0|0HG02723 : 0|0 |
0|0HG02818 : 0|0 |
0|0HG02886 : 0|0 |
0|0HG03098 : 0|0 |
0|0HG03453 : 0|0 |
0|0HG03486 : 0|0 |
0|0HG03492 : 0|0 |
0|0HG03516 : 0|0 |
0|0HG03540 : 0|0 |
0|0HG03579 : 0|0 |
0|0NA18906 : 0|0 |
0|0NA20129 : 0|0 |
0|0NA21309 : 0|0 |
||
NAACMG_class : NA AnnotSV_ranking_score : . AnnotSV_ranking_criteria : . |
INSSV_type : INS SV_length : 316 Gene_count : 1 |
fullAnnotation_mode : full |
ANLNGene_name : ANLN; LOEUF_bin : 1 GnomAD_pLI : 1.4261e-01 ExAC_pLI : 9.2352e-01 HI : . TS : . DDD_HI_percent : 39.04 ExAC_cnvZ : 1.09204628201289 ExAC_delZ : 0.710508734393195 ExAC_dupZ : 1.04781674275271 ExAC_synZ : -0.0743439014407289 ExAC_misZ : -0.203952633529516 Closest_left : MATCAP2 Closest_right : AOAH |
.Location : . CytoBand : p14.2 |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_gain_phen : . po_P_gain_hpo : . po_P_gain_source : dbVar:nssv15777247; dbVar:nssv15168013; dbVar:nssv15161666; nssv15161679; dbVar:nssv15168014; dbVar:nssv15161745; dbVar:nssv15161726; dbVar:nssv15161869; dbVar:nssv17970205; dbVar:nssv15154527; dbVar:nssv15146465 po_P_gain_coord : 7:10366-159327017; 7:10705-159329842; 7:43362-159327017; 7:44936-159333620; 7:54186-37089712; 7:54186-41875885; 7:11009214-52795933; 7:27468214-39032873; 7:30424271-43431206; 7:33328313-62377476 po_P_gain_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00 po_P_loss_phen : Focal segmental glomerulosclerosis 8, 616032 (3) AD po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15161318; dbVar:nssv15147510; dbVar:nssv15148432; dbVar:nssv15147453; morbid:ANLN po_P_loss_coord : 7:54186-159282390; 7:32678392-41044983; 7:32871392-44536406; 7:35460777-42013800; 7:36389862-36453791 po_P_loss_percent : 0.00; 0.00; 0.00; 0.00; 0.00 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . B_loss_source : gnomAD-SV_v3_DEL_chr7_f5bb684d B_loss_coord : chr7:26936102-36716780 B_loss_AFmax : 0.0533 po_B_gain_allG_source : . po_B_gain_allG_coord : . po_B_gain_someG_source : . po_B_gain_someG_coord : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : chr7:26936102-36716780 gnomAD-SV_v3_DEL_chr7_f5bb684d |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : . Repeat_type_left : . Gap_left : . GC_content_left : 0.250 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : . Repeat_type_right : . Gap_right : . GC_content_right : 0.255 |
CHM13,NA18906Samples_ID : CHM13,NA18906 |
>34606394>34606396ID : >34606394>34606396 |
AREF : A |
AAGAAGAGTAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC[...]ALT : AAGAAGAGTAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAA |
60QUAL : 60 |
.FILTER : . |
AC=1; AF=0.011236; AN=89; AT=>34606394>[...]INFO : AC=1; AF=0.011236; AN=89; AT=>34606394>34606396,>34606394>34606395>34606396; CONFLICT=HG01243; LV=0; NS=45; e=36394634; s=316; rC=SINE/Alu |
GTFORMAT : GT |
0CHM13 : 0 |
0|0HG00438 : 0|0 |
0|0HG00621 : 0|0 |
0|0HG00673 : 0|0 |
0|0HG00733 : 0|0 |
0|0HG00735 : 0|0 |
0|0HG00741 : 0|0 |
0|0HG01071 : 0|0 |
0|0HG01106 : 0|0 |
0|0HG01109 : 0|0 |
0|0HG01123 : 0|0 |
0|0HG01175 : 0|0 |
0|0HG01243 : 0|0 |
0|0HG01258 : 0|0 |
0|0HG01358 : 0|0 |
0|0HG01361 : 0|0 |
0|0HG01891 : 0|0 |
0|0HG01928 : 0|0 |
0|0HG01952 : 0|0 |
0|0HG01978 : 0|0 |
0|0HG02055 : 0|0 |
0|0HG02080 : 0|0 |
0|0HG02109 : 0|0 |
0|0HG02145 : 0|0 |
0|0HG02148 : 0|0 |
0|0HG02257 : 0|0 |
0|0HG02486 : 0|0 |
0|0HG02559 : 0|0 |
0|0HG02572 : 0|0 |
0|0HG02622 : 0|0 |
0|0HG02630 : 0|0 |
0|0HG02717 : 0|0 |
0|0HG02723 : 0|0 |
0|0HG02818 : 0|0 |
0|0HG02886 : 0|0 |
0|0HG03098 : 0|0 |
0|0HG03453 : 0|0 |
0|0HG03486 : 0|0 |
0|0HG03492 : 0|0 |
0|0HG03516 : 0|0 |
0|0HG03540 : 0|0 |
0|0HG03579 : 0|0 |
1|0NA18906 : 1|0 |
0|0NA20129 : 0|0 |
0|0NA21309 : 0|0 |
||
full=NAACMG_class : full=NA |
INSSV_type : INS SV_length : 316 |
splitAnnotation_mode : split |
ANLNGene_name : ANLN; LOEUF_bin : 1 GnomAD_pLI : 1.4261e-01 ExAC_pLI : 9.2352e-01 HI : . TS : . DDD_HI_percent : 39.04 ACMG : . ExAC_cnvZ : 1.09204628201289 ExAC_delZ : 0.710508734393195 ExAC_dupZ : 1.04781674275271 ExAC_synZ : -0.0743439014407289 ExAC_misZ : -0.203952633529516 GenCC_disease : familial idiopathic steroid-resistant nephrotic syndrome; focal segmental glomerulosclerosis 8 GenCC_moi : AD GenCC_classification : Limited; Strong; Supportive GenCC_pmid : 24676636; 24676636[PMID]; 29869118; 30406062 NCBI_gene_ID : 54443 |
intron1-intron1Location : intron1-intron1 CytoBand : p14.2 Location2 : CDS Tx : NM_001284301 Tx_version : 3 Tx_start : 36389861 Tx_end : 36453791 Exon_count : 23 Overlapped_tx_length : 1 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 1631 Nearest_SS_type : 3' Intersect_start : 36394633 Intersect_end : 36394634 |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . B_loss_source : gnomAD-SV_v3_DEL_chr7_f5bb684d B_loss_coord : chr7:26936102-36716780 B_loss_AFmax : 0.0533 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
CHM13,NA18906Samples_ID : CHM13,NA18906 |
>34606394>34606396ID : >34606394>34606396 |
AREF : A |
AAGAAGAGTAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC[...]ALT : AAGAAGAGTAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAA |
60QUAL : 60 |
.FILTER : . |
AC=1; AF=0.011236; AN=89; AT=>34606394>[...]INFO : AC=1; AF=0.011236; AN=89; AT=>34606394>34606396,>34606394>34606395>34606396; CONFLICT=HG01243; LV=0; NS=45; e=36394634; s=316; rC=SINE/Alu |
GTFORMAT : GT |
0CHM13 : 0 |
0|0HG00438 : 0|0 |
0|0HG00621 : 0|0 |
0|0HG00673 : 0|0 |
0|0HG00733 : 0|0 |
0|0HG00735 : 0|0 |
0|0HG00741 : 0|0 |
0|0HG01071 : 0|0 |
0|0HG01106 : 0|0 |
0|0HG01109 : 0|0 |
0|0HG01123 : 0|0 |
0|0HG01175 : 0|0 |
0|0HG01243 : 0|0 |
0|0HG01258 : 0|0 |
0|0HG01358 : 0|0 |
0|0HG01361 : 0|0 |
0|0HG01891 : 0|0 |
0|0HG01928 : 0|0 |
0|0HG01952 : 0|0 |
0|0HG01978 : 0|0 |
0|0HG02055 : 0|0 |
0|0HG02080 : 0|0 |
0|0HG02109 : 0|0 |
0|0HG02145 : 0|0 |
0|0HG02148 : 0|0 |
0|0HG02257 : 0|0 |
0|0HG02486 : 0|0 |
0|0HG02559 : 0|0 |
0|0HG02572 : 0|0 |
0|0HG02622 : 0|0 |
0|0HG02630 : 0|0 |
0|0HG02717 : 0|0 |
0|0HG02723 : 0|0 |
0|0HG02818 : 0|0 |
0|0HG02886 : 0|0 |
0|0HG03098 : 0|0 |
0|0HG03453 : 0|0 |
0|0HG03486 : 0|0 |
0|0HG03492 : 0|0 |
0|0HG03516 : 0|0 |
0|0HG03540 : 0|0 |
0|0HG03579 : 0|0 |
1|0NA18906 : 1|0 |
0|0NA20129 : 0|0 |
0|0NA21309 : 0|0 |
||
NAACMG_class : NA AnnotSV_ranking_score : . AnnotSV_ranking_criteria : . |
INSSV_type : INS SV_length : 322 Gene_count : 1 |
fullAnnotation_mode : full |
FRAS1Gene_name : FRAS1; LOEUF_bin : 3 GnomAD_pLI : 3.0802e-45 ExAC_pLI : 2.2900e-23 HI : . TS : . DDD_HI_percent : 41.67 ExAC_cnvZ : -0.38579065416304 ExAC_delZ : -1.18699399079496 ExAC_dupZ : -0.00389550706240629 ExAC_synZ : -1.71964173016423 ExAC_misZ : -1.86555635638448 Closest_left : SNORD161 Closest_right : ANXA3 |
.Location : . CytoBand : q21.21 |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_gain_phen : . po_P_gain_hpo : . po_P_gain_source : dbVar:nssv15165478; dbVar:nssv15148693; dbVar:nssv15165480; dbVar:nssv15164282; dbVar:nssv15149870; nssv15151360; dbVar:nssv15145710; dbVar:nssv17956560; dbVar:nssv15774461; dbVar:nssv15146779; dbVar:nssv15148858; dbVar:nssv17969957; dbVar:nssv15122970 po_P_gain_coord : 4:11526-190107724; 4:12441-189983286; 4:49557-189994495; 4:49557-190042611; 4:68455-190036318; 4:51831623-97505618; 4:52000779-142661354; 4:67377067-82070278; 4:68686089-95294456; 4:72262259-86002147; 4:74812131-90210005; 4:75801144-79005805 po_P_gain_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00 po_P_loss_phen : Fraser syndrome 1, 219000 (3) AR po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15125766; dbVar:nssv18830797; dbVar:nssv16207960; dbVar:nssv16254734; dbVar:nssv16207962; dbVar:nssv17969955; dbVar:nssv15146323; dbVar:nssv15775178; morbid:FRAS1 po_P_loss_coord : 4:58301080-100989502; 4:67833056-82716065; 4:68084646-78817444; 4:70546693-86999632; 4:71815163-85505079; 4:72189597-79162000; 4:75453112-84094295; 4:77848144-84047679; 4:78057323-78544269 po_P_loss_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . B_loss_source : dbVar; gnomAD-SV_v3_DEL_chr4_aa7116c9 B_loss_coord : chr4:73564711-189048534; chr4:78344768-78470852 B_loss_AFmax : 0.2162 po_B_gain_allG_source : . po_B_gain_allG_coord : . po_B_gain_someG_source : . po_B_gain_someG_coord : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : chr4:78344768-78470852 dbVar po_B_loss_someG_coord : chr4:73564711-189048534 gnomAD-SV_v3_DEL_chr4_aa7116c9 |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : . Repeat_type_left : . Gap_left : . GC_content_left : 0.400 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : . Repeat_type_right : . Gap_right : . GC_content_right : 0.405 |
CHM13,HG01243,HG02145,HG02723,HG02886,HG03098[...]Samples_ID : CHM13,HG01243,HG02145,HG02723,HG02886,HG03098,HG03516 |
>19997800>19997802ID : >19997800>19997802 |
AREF : A |
AACAAGTGTCCCGGCCGGGCGCGGTGTCTCACGCCTGTAATCCCA[...]ALT : AACAAGTGTCCCGGCCGGGCGCGGTGTCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTGGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCCGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAACAA |
60QUAL : 60 |
.FILTER : . |
AC=8; AF=0.0898876; AN=89; AT=>19997800>[...]INFO : AC=8; AF=0.0898876; AN=89; AT=>19997800>19997802,>19997800<19997801>19997802; LV=0; NS=45; e=78450987; s=322; rC=SINE/Alu |
GTFORMAT : GT |
0CHM13 : 0 |
0|0HG00438 : 0|0 |
0|0HG00621 : 0|0 |
0|0HG00673 : 0|0 |
0|0HG00733 : 0|0 |
0|0HG00735 : 0|0 |
0|0HG00741 : 0|0 |
0|0HG01071 : 0|0 |
0|0HG01106 : 0|0 |
0|0HG01109 : 0|0 |
0|0HG01123 : 0|0 |
0|0HG01175 : 0|0 |
1|0HG01243 : 1|0 |
0|0HG01258 : 0|0 |
0|0HG01358 : 0|0 |
0|0HG01361 : 0|0 |
0|0HG01891 : 0|0 |
0|0HG01928 : 0|0 |
0|0HG01952 : 0|0 |
0|0HG01978 : 0|0 |
0|0HG02055 : 0|0 |
0|0HG02080 : 0|0 |
0|0HG02109 : 0|0 |
0|1HG02145 : 0|1 |
0|0HG02148 : 0|0 |
0|0HG02257 : 0|0 |
0|0HG02486 : 0|0 |
0|0HG02559 : 0|0 |
0|0HG02572 : 0|0 |
0|0HG02622 : 0|0 |
0|0HG02630 : 0|0 |
0|0HG02717 : 0|0 |
1|1HG02723 : 1|1 |
0|0HG02818 : 0|0 |
1|1HG02886 : 1|1 |
1|0HG03098 : 1|0 |
0|0HG03453 : 0|0 |
0|0HG03486 : 0|0 |
0|0HG03492 : 0|0 |
1|0HG03516 : 1|0 |
0|0HG03540 : 0|0 |
0|0HG03579 : 0|0 |
0|0NA18906 : 0|0 |
0|0NA20129 : 0|0 |
0|0NA21309 : 0|0 |
||
full=NAACMG_class : full=NA |
INSSV_type : INS SV_length : 322 |
splitAnnotation_mode : split |
FRAS1Gene_name : FRAS1; LOEUF_bin : 3 GnomAD_pLI : 3.0802e-45 ExAC_pLI : 2.2900e-23 HI : . TS : . DDD_HI_percent : 41.67 ACMG : . ExAC_cnvZ : -0.38579065416304 ExAC_delZ : -1.18699399079496 ExAC_dupZ : -0.00389550706240629 ExAC_synZ : -1.71964173016423 ExAC_misZ : -1.86555635638448 GenCC_disease : Fraser syndrome; Fraser syndrome 1; renal agenesis, unilateral GenCC_moi : AD; AR GenCC_classification : Definitive; Strong; Supportive GenCC_pmid : 12766769; 127667690; 15838507; 16894541; 17163535; 18203166; 18671281; 21900877[PMID]_24700879[PMID]; 23473829[PMID] NCBI_gene_ID : 80144 |
intron45-intron45Location : intron45-intron45 CytoBand : q21.21 Location2 : CDS Tx : NM_025074 Tx_version : 7 Tx_start : 78057322 Tx_end : 78544269 Exon_count : 74 Overlapped_tx_length : 1 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 647 Nearest_SS_type : 5' Intersect_start : 78450986 Intersect_end : 78450987 |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . B_loss_source : dbVar; gnomAD-SV_v3_DEL_chr4_aa7116c9 B_loss_coord : chr4:73564711-189048534; chr4:78344768-78470852 B_loss_AFmax : 0.2162 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
CHM13,HG01243,HG02145,HG02723,HG02886,HG03098[...]Samples_ID : CHM13,HG01243,HG02145,HG02723,HG02886,HG03098,HG03516 |
>19997800>19997802ID : >19997800>19997802 |
AREF : A |
AACAAGTGTCCCGGCCGGGCGCGGTGTCTCACGCCTGTAATCCCA[...]ALT : AACAAGTGTCCCGGCCGGGCGCGGTGTCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTGGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCCGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAACAA |
60QUAL : 60 |
.FILTER : . |
AC=8; AF=0.0898876; AN=89; AT=>19997800>[...]INFO : AC=8; AF=0.0898876; AN=89; AT=>19997800>19997802,>19997800<19997801>19997802; LV=0; NS=45; e=78450987; s=322; rC=SINE/Alu |
GTFORMAT : GT |
0CHM13 : 0 |
0|0HG00438 : 0|0 |
0|0HG00621 : 0|0 |
0|0HG00673 : 0|0 |
0|0HG00733 : 0|0 |
0|0HG00735 : 0|0 |
0|0HG00741 : 0|0 |
0|0HG01071 : 0|0 |
0|0HG01106 : 0|0 |
0|0HG01109 : 0|0 |
0|0HG01123 : 0|0 |
0|0HG01175 : 0|0 |
1|0HG01243 : 1|0 |
0|0HG01258 : 0|0 |
0|0HG01358 : 0|0 |
0|0HG01361 : 0|0 |
0|0HG01891 : 0|0 |
0|0HG01928 : 0|0 |
0|0HG01952 : 0|0 |
0|0HG01978 : 0|0 |
0|0HG02055 : 0|0 |
0|0HG02080 : 0|0 |
0|0HG02109 : 0|0 |
0|1HG02145 : 0|1 |
0|0HG02148 : 0|0 |
0|0HG02257 : 0|0 |
0|0HG02486 : 0|0 |
0|0HG02559 : 0|0 |
0|0HG02572 : 0|0 |
0|0HG02622 : 0|0 |
0|0HG02630 : 0|0 |
0|0HG02717 : 0|0 |
1|1HG02723 : 1|1 |
0|0HG02818 : 0|0 |
1|1HG02886 : 1|1 |
1|0HG03098 : 1|0 |
0|0HG03453 : 0|0 |
0|0HG03486 : 0|0 |
0|0HG03492 : 0|0 |
1|0HG03516 : 1|0 |
0|0HG03540 : 0|0 |
0|0HG03579 : 0|0 |
0|0NA18906 : 0|0 |
0|0NA20129 : 0|0 |
0|0NA21309 : 0|0 |
||
NAACMG_class : NA AnnotSV_ranking_score : . AnnotSV_ranking_criteria : . |
INSSV_type : INS SV_length : 291 Gene_count : 1 |
fullAnnotation_mode : full |
.Location : . CytoBand : q13.1 |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_gain_phen : . po_P_gain_hpo : . po_P_gain_source : dbVar:nssv15165478; dbVar:nssv15148693; dbVar:nssv15165480; dbVar:nssv15164282; dbVar:nssv15150634; dbVar:nssv15149870; nssv15151360; dbVar:nssv15120560; dbVar:nssv15145710; dbVar:nssv17956560; dbVar:nssv15153593 po_P_gain_coord : 4:11526-190107724; 4:12441-189983286; 4:49557-189994495; 4:49557-190042611; 4:68454-65574904; 4:68455-190036318; 4:51831623-66991489; 4:51831623-97505618; 4:52000779-142661354; 4:63839784-72603999 po_P_gain_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00 po_P_loss_phen : Ventricular tachycardia, catecholaminergic polymorphic, 3, 614021 (3) AR po_P_loss_hpo : . po_P_loss_source : dbVar:nssv17173265; dbVar:nssv15165214; dbVar:nssv15125766; dbVar:nssv15755202; dbVar:nssv17969950; morbid:TECRL po_P_loss_coord : 4:51891815-76009719; 4:57466129-70721898; 4:58301080-100989502; 4:60739739-67897225; 4:61001838-73845800; 4:64309826-64409460 po_P_loss_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . B_loss_source : dbVar B_loss_coord : chr4:63452671-64357231; chr4:64342926-64472027 B_loss_AFmax : 0.01 po_B_gain_allG_source : . po_B_gain_allG_coord : . po_B_gain_someG_source : . po_B_gain_someG_coord : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : chr4:64342926-64472027 dbVar po_B_loss_someG_coord : chr4:63452671-64357231 dbVar |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 4:64351003-64351294 Repeat_type_left : L1MA4A Gap_left : . GC_content_left : 0.350 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 4:64351003-64351294 Repeat_type_right : L1MA4A Gap_right : . GC_content_right : 0.350 |
CHM13,HG00438,HG00621,HG00673,HG00733,HG00735[...]Samples_ID : CHM13,HG00438,HG00621,HG00673,HG00733,HG00735,HG00741,HG01071,HG01106,HG01109,HG01123,HG01175,HG01258,HG01358,HG01361,HG01952,HG01978,HG02055,HG02080,HG02109,HG02148,HG02257,HG02486,HG02559,HG02572,HG02622,HG02717,HG02818,HG02886,HG03453,HG03486,HG03492,HG03516,HG03540,HG03579,NA18906,NA20129,NA21309 |
>19665084>19665086ID : >19665084>19665086 |
GREF : G |
GGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGA[...]ALT : GGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGAGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCCAGGGGGCGGAGCCTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGCGAGACTCCGTCTCAAAAAAAAAAA |
60QUAL : 60 |
.FILTER : . |
AC=50; AF=0.561798; AN=89; AT=>19665084>[...]INFO : AC=50; AF=0.561798; AN=89; AT=>19665084>19665086,>19665084<19665085>19665086; LV=0; NS=45; e=64351028; s=291; rC=SINE/Alu |
GTFORMAT : GT |
0CHM13 : 0 |
1|0HG00438 : 1|0 |
1|1HG00621 : 1|1 |
1|1HG00673 : 1|1 |
1|1HG00733 : 1|1 |
1|1HG00735 : 1|1 |
1|1HG00741 : 1|1 |
0|1HG01071 : 0|1 |
1|0HG01106 : 1|0 |
1|0HG01109 : 1|0 |
0|1HG01123 : 0|1 |
0|1HG01175 : 0|1 |
0|0HG01243 : 0|0 |
1|0HG01258 : 1|0 |
1|0HG01358 : 1|0 |
0|1HG01361 : 0|1 |
0|0HG01891 : 0|0 |
0|0HG01928 : 0|0 |
1|1HG01952 : 1|1 |
1|1HG01978 : 1|1 |
0|1HG02055 : 0|1 |
1|1HG02080 : 1|1 |
0|1HG02109 : 0|1 |
0|0HG02145 : 0|0 |
0|1HG02148 : 0|1 |
1|0HG02257 : 1|0 |
1|1HG02486 : 1|1 |
1|0HG02559 : 1|0 |
1|1HG02572 : 1|1 |
0|1HG02622 : 0|1 |
0|0HG02630 : 0|0 |
1|0HG02717 : 1|0 |
0|0HG02723 : 0|0 |
1|0HG02818 : 1|0 |
1|1HG02886 : 1|1 |
0|0HG03098 : 0|0 |
0|1HG03453 : 0|1 |
1|1HG03486 : 1|1 |
1|0HG03492 : 1|0 |
1|0HG03516 : 1|0 |
1|0HG03540 : 1|0 |
1|0HG03579 : 1|0 |
1|1NA18906 : 1|1 |
1|0NA20129 : 1|0 |
1|0NA21309 : 1|0 |
|||
full=NAACMG_class : full=NA |
INSSV_type : INS SV_length : 291 |
splitAnnotation_mode : split |
TECRLGene_name : TECRL; LOEUF_bin : 7 GnomAD_pLI : 3.1983e-12 ExAC_pLI : 6.3998e-10 HI : . TS : . DDD_HI_percent : 37.79 ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : 0.10320918315004 ExAC_misZ : -1.45546820389316 GenCC_disease : catecholaminergic polymorphic ventricular tachycardia; catecholaminergic polymorphic ventricular tachycardia 3 GenCC_moi : AD; AR GenCC_classification : Definitive; Limited; Moderate; Strong; Supportive GenCC_pmid : 27861123; 27861123[PMID]; 30790670; 32173957; 33367594 NCBI_gene_ID : 253017 |
intron2-intron2Location : intron2-intron2 CytoBand : q13.1 Location2 : CDS Tx : NM_001363796 Tx_version : 1 Tx_start : 64276297 Tx_end : 64409460 Exon_count : 12 Overlapped_tx_length : 1 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 22471 Nearest_SS_type : 3' Intersect_start : 64351027 Intersect_end : 64351028 |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . B_loss_source : dbVar B_loss_coord : chr4:63452671-64357231; chr4:64342926-64472027 B_loss_AFmax : 0.01 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
CHM13,HG00438,HG00621,HG00673,HG00733,HG00735[...]Samples_ID : CHM13,HG00438,HG00621,HG00673,HG00733,HG00735,HG00741,HG01071,HG01106,HG01109,HG01123,HG01175,HG01258,HG01358,HG01361,HG01952,HG01978,HG02055,HG02080,HG02109,HG02148,HG02257,HG02486,HG02559,HG02572,HG02622,HG02717,HG02818,HG02886,HG03453,HG03486,HG03492,HG03516,HG03540,HG03579,NA18906,NA20129,NA21309 |
>19665084>19665086ID : >19665084>19665086 |
GREF : G |
GGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGA[...]ALT : GGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGAGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCCAGGGGGCGGAGCCTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGCGAGACTCCGTCTCAAAAAAAAAAA |
60QUAL : 60 |
.FILTER : . |
AC=50; AF=0.561798; AN=89; AT=>19665084>[...]INFO : AC=50; AF=0.561798; AN=89; AT=>19665084>19665086,>19665084<19665085>19665086; LV=0; NS=45; e=64351028; s=291; rC=SINE/Alu |
GTFORMAT : GT |
0CHM13 : 0 |
1|0HG00438 : 1|0 |
1|1HG00621 : 1|1 |
1|1HG00673 : 1|1 |
1|1HG00733 : 1|1 |
1|1HG00735 : 1|1 |
1|1HG00741 : 1|1 |
0|1HG01071 : 0|1 |
1|0HG01106 : 1|0 |
1|0HG01109 : 1|0 |
0|1HG01123 : 0|1 |
0|1HG01175 : 0|1 |
0|0HG01243 : 0|0 |
1|0HG01258 : 1|0 |
1|0HG01358 : 1|0 |
0|1HG01361 : 0|1 |
0|0HG01891 : 0|0 |
0|0HG01928 : 0|0 |
1|1HG01952 : 1|1 |
1|1HG01978 : 1|1 |
0|1HG02055 : 0|1 |
1|1HG02080 : 1|1 |
0|1HG02109 : 0|1 |
0|0HG02145 : 0|0 |
0|1HG02148 : 0|1 |
1|0HG02257 : 1|0 |
1|1HG02486 : 1|1 |
1|0HG02559 : 1|0 |
1|1HG02572 : 1|1 |
0|1HG02622 : 0|1 |
0|0HG02630 : 0|0 |
1|0HG02717 : 1|0 |
0|0HG02723 : 0|0 |
1|0HG02818 : 1|0 |
1|1HG02886 : 1|1 |
0|0HG03098 : 0|0 |
0|1HG03453 : 0|1 |
1|1HG03486 : 1|1 |
1|0HG03492 : 1|0 |
1|0HG03516 : 1|0 |
1|0HG03540 : 1|0 |
1|0HG03579 : 1|0 |
1|1NA18906 : 1|1 |
1|0NA20129 : 1|0 |
1|0NA21309 : 1|0 |
||
NAACMG_class : NA AnnotSV_ranking_score : . AnnotSV_ranking_criteria : . |
INSSV_type : INS SV_length : 160 Gene_count : 1 |
fullAnnotation_mode : full |
.Location : . CytoBand : q12.2 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_gain_phen : . po_P_gain_hpo : . po_P_gain_source : dbVar:nssv15161992; dbVar:nssv15164031; dbVar:nssv15150031; dbVar:nssv16254742; dbVar:nssv15150491; dbVar:nssv15146973; dbVar:nssv15161990; dbVar:nssv15774756; dbVar:nssv15149512; nssv15150794; dbVar:nssv15146613; dbVar:nssv15147269; dbVar:nssv15128500; dbVar:nssv15132566; dbVar:nssv15135998; dbVar:nssv15154019; dbVar:nssv15134705; dbVar:nssv15142303; dbVar:nssv15132509; dbVar:nssv15141185; dbVar:nssv16208602 po_P_gain_coord : 22:16367191-50757300; 22:16367191-50772964; 22:16367191-50782474; 22:16367191-50785824; 22:16367191-50799035; 22:16367191-50799090; 22:16367191-50805007; 22:16408174-50759410; 22:16408175-50759410; 22:16916609-50739836; 22:16916744-50739785; 22:18145366-50806138; 22:18178958-31821193; 22:20907227-37187347; 22:22106345-34802241; 22:23279232-36247369; 22:23295721-36218366; 22:26979580-33992220; 22:27953867-32617076; 22:30258776-50759410 po_P_gain_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00 po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15139891; dbVar:nssv15154010 po_P_loss_coord : 22:26451043-31451926; 22:29248637-30655732 po_P_loss_percent : 0.00; 0.00 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_gain_allG_source : . po_B_gain_allG_coord : . po_B_gain_someG_source : . po_B_gain_someG_coord : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 22:30596679-30598399 Repeat_type_left : LTR12C Gap_left : . GC_content_left : 0.420 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 22:30596679-30598399 Repeat_type_right : LTR12C Gap_right : . GC_content_right : 0.420 |
CHM13,HG00438,HG00621,HG00673,HG00733,HG00735[...]Samples_ID : CHM13,HG00438,HG00621,HG00673,HG00733,HG00735,HG00741,HG01071,HG01106,HG01109,HG01123,HG01175,HG01243,HG01258,HG01358,HG01361,HG01891,HG01928,HG01952,HG01978,HG02055,HG02080,HG02109,HG02145,HG02148,HG02257,HG02486,HG02559,HG02572,HG02622,HG02630,HG02717,HG02723,HG02818,HG02886,HG03098,HG03453,HG03486,HG03492,HG03516,HG03540,HG03579,NA18906,NA20129,NA21309 |
>76613132>76613134ID : >76613132>76613134 |
CREF : C |
CGGGGTTTGTGGATGCACCAATCGGCACTCTGTATCTGGCTAATC[...]ALT : CGGGGTTTGTGGATGCACCAATCGGCACTCTGTATCTGGCTAATCTGGTAGCAATGTGGAGAATCTTTATGTCTAGCTAAGGGATTGTGAATACACCAGTGGGCACTCTGTATCTAGCTCAAGGTTTGTAAATGCACCAATCAGCACCCTGTGTCTAGCTC |
60QUAL : 60 |
.FILTER : . |
AC=89; AF=1; AN=89; AT=>76613132>766131[...]INFO : AC=89; AF=1; AN=89; AT=>76613132>76613134,>76613132>76613133>76613134; LV=0; NS=45; e=30597450; s=160; rC=LTR/ERV |
GTFORMAT : GT |
1CHM13 : 1 |
1|1HG00438 : 1|1 |
1|1HG00621 : 1|1 |
1|1HG00673 : 1|1 |
1|1HG00733 : 1|1 |
1|1HG00735 : 1|1 |
1|1HG00741 : 1|1 |
1|1HG01071 : 1|1 |
1|1HG01106 : 1|1 |
1|1HG01109 : 1|1 |
1|1HG01123 : 1|1 |
1|1HG01175 : 1|1 |
1|1HG01243 : 1|1 |
1|1HG01258 : 1|1 |
1|1HG01358 : 1|1 |
1|1HG01361 : 1|1 |
1|1HG01891 : 1|1 |
1|1HG01928 : 1|1 |
1|1HG01952 : 1|1 |
1|1HG01978 : 1|1 |
1|1HG02055 : 1|1 |
1|1HG02080 : 1|1 |
1|1HG02109 : 1|1 |
1|1HG02145 : 1|1 |
1|1HG02148 : 1|1 |
1|1HG02257 : 1|1 |
1|1HG02486 : 1|1 |
1|1HG02559 : 1|1 |
1|1HG02572 : 1|1 |
1|1HG02622 : 1|1 |
1|1HG02630 : 1|1 |
1|1HG02717 : 1|1 |
1|1HG02723 : 1|1 |
1|1HG02818 : 1|1 |
1|1HG02886 : 1|1 |
1|1HG03098 : 1|1 |
1|1HG03453 : 1|1 |
1|1HG03486 : 1|1 |
1|1HG03492 : 1|1 |
1|1HG03516 : 1|1 |
1|1HG03540 : 1|1 |
1|1HG03579 : 1|1 |
1|1NA18906 : 1|1 |
1|1NA20129 : 1|1 |
1|1NA21309 : 1|1 |
||
full=NAACMG_class : full=NA |
INSSV_type : INS SV_length : 160 |
splitAnnotation_mode : split |
PES1Gene_name : PES1; LOEUF_bin : 1 GnomAD_pLI : 7.1904e-01 ExAC_pLI : 6.5511e-01 HI : . TS : . DDD_HI_percent : 34.12 ACMG : . ExAC_cnvZ : 1.51269056500574 ExAC_delZ : 1.0463917854169 ExAC_dupZ : 1.34830154957796 ExAC_synZ : 0.0440009621206941 ExAC_misZ : 0.646709555675726 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 23481 |
intron2-intron2Location : intron2-intron2 CytoBand : q12.2 Location2 : 5'UTR Tx : NM_001282327 Tx_version : 1 Tx_start : 30576624 Tx_end : 30607013 Exon_count : 17 Overlapped_tx_length : 1 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 5051 Nearest_SS_type : 3' Intersect_start : 30597449 Intersect_end : 30597450 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
CHM13,HG00438,HG00621,HG00673,HG00733,HG00735[...]Samples_ID : CHM13,HG00438,HG00621,HG00673,HG00733,HG00735,HG00741,HG01071,HG01106,HG01109,HG01123,HG01175,HG01243,HG01258,HG01358,HG01361,HG01891,HG01928,HG01952,HG01978,HG02055,HG02080,HG02109,HG02145,HG02148,HG02257,HG02486,HG02559,HG02572,HG02622,HG02630,HG02717,HG02723,HG02818,HG02886,HG03098,HG03453,HG03486,HG03492,HG03516,HG03540,HG03579,NA18906,NA20129,NA21309 |
>76613132>76613134ID : >76613132>76613134 |
CREF : C |
CGGGGTTTGTGGATGCACCAATCGGCACTCTGTATCTGGCTAATC[...]ALT : CGGGGTTTGTGGATGCACCAATCGGCACTCTGTATCTGGCTAATCTGGTAGCAATGTGGAGAATCTTTATGTCTAGCTAAGGGATTGTGAATACACCAGTGGGCACTCTGTATCTAGCTCAAGGTTTGTAAATGCACCAATCAGCACCCTGTGTCTAGCTC |
60QUAL : 60 |
.FILTER : . |
AC=89; AF=1; AN=89; AT=>76613132>766131[...]INFO : AC=89; AF=1; AN=89; AT=>76613132>76613134,>76613132>76613133>76613134; LV=0; NS=45; e=30597450; s=160; rC=LTR/ERV |
GTFORMAT : GT |
1CHM13 : 1 |
1|1HG00438 : 1|1 |
1|1HG00621 : 1|1 |
1|1HG00673 : 1|1 |
1|1HG00733 : 1|1 |
1|1HG00735 : 1|1 |
1|1HG00741 : 1|1 |
1|1HG01071 : 1|1 |
1|1HG01106 : 1|1 |
1|1HG01109 : 1|1 |
1|1HG01123 : 1|1 |
1|1HG01175 : 1|1 |
1|1HG01243 : 1|1 |
1|1HG01258 : 1|1 |
1|1HG01358 : 1|1 |
1|1HG01361 : 1|1 |
1|1HG01891 : 1|1 |
1|1HG01928 : 1|1 |
1|1HG01952 : 1|1 |
1|1HG01978 : 1|1 |
1|1HG02055 : 1|1 |
1|1HG02080 : 1|1 |
1|1HG02109 : 1|1 |
1|1HG02145 : 1|1 |
1|1HG02148 : 1|1 |
1|1HG02257 : 1|1 |
1|1HG02486 : 1|1 |
1|1HG02559 : 1|1 |
1|1HG02572 : 1|1 |
1|1HG02622 : 1|1 |
1|1HG02630 : 1|1 |
1|1HG02717 : 1|1 |
1|1HG02723 : 1|1 |
1|1HG02818 : 1|1 |
1|1HG02886 : 1|1 |
1|1HG03098 : 1|1 |
1|1HG03453 : 1|1 |
1|1HG03486 : 1|1 |
1|1HG03492 : 1|1 |
1|1HG03516 : 1|1 |
1|1HG03540 : 1|1 |
1|1HG03579 : 1|1 |
1|1NA18906 : 1|1 |
1|1NA20129 : 1|1 |
1|1NA21309 : 1|1 |
|
NAACMG_class : NA AnnotSV_ranking_score : . AnnotSV_ranking_criteria : . |
INSSV_type : INS SV_length : 291 Gene_count : 1 |
fullAnnotation_mode : full |
MACROD2Gene_name : MACROD2; LOEUF_bin : 2 GnomAD_pLI : 4.3472e-01 ExAC_pLI : 1.1357e-02 HI : . TS : . DDD_HI_percent : 1.49 ExAC_cnvZ : -0.692742758341261 ExAC_delZ : -1.18278709618643 ExAC_dupZ : -0.597815534527543 ExAC_synZ : 0.337580800459273 ExAC_misZ : 0.372539789325987 Closest_left : MACROD2-AS1 Closest_right : LOC613266 |
.Location : . CytoBand : p12.1 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_gain_phen : . po_P_gain_hpo : . po_P_gain_source : dbVar:nssv15161063; dbVar:nssv15161100; nssv16207408; dbVar:nssv15146775; dbVar:nssv15161429; nssv15161862; dbVar:nssv15163105; dbVar:nssv15163106; dbVar:nssv15163386; dbVar:nssv18841995; dbVar:nssv15161655; dbVar:nssv15145781; dbVar:nssv15146333; dbVar:nssv15161728; dbVar:nssv15143157; dbVar:nssv15161606; dbVar:nssv15161322; dbVar:nssv15161048; dbVar:nssv15606079 po_P_gain_coord : 20:80107-30227427; 20:80928-26324843; 20:80929-18688031; 20:80929-64284202; 20:82604-64281110; 20:82604-64317435; 20:82604-64329941; 20:87154-23635465; 20:87197-30403687; 20:89940-19071495; 20:89940-19146279; 20:89940-25697564; 20:89940-30285316; 20:99558-26095205; 20:99558-64277321; 20:9811434-39316956; 20:11736178-19350411 po_P_gain_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00 po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15156259; dbVar:nssv16208567 po_P_loss_coord : 20:3112094-17110808; 20:8591050-22108012 po_P_loss_percent : 0.00; 0.00 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . B_loss_source : dbVar B_loss_coord : chr20:14677820-15136935; chr20:14792038-15215728; chr20:14868497-15175922; chr20:14869088-15218497; chr20:14887414-15258760; chr20:14903118-15146085; chr20:14923608-15194779; chr20:14927205-15219198; chr20:14950413-15255019; chr20:14977746-15197765; chr20:15006063-15130589; chr20:15046370-15163731; chr20:15055540-15164070; chr20:15065174-15165016; chr20:15093012-15159337; chr20:15120132-15155311 B_loss_AFmax : 0.01 po_B_gain_allG_source : . po_B_gain_allG_coord : . po_B_gain_someG_source : . po_B_gain_someG_coord : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : chr20:14792038-15215728 dbVar; chr20:14869088-15218497 dbVar; chr20:14903118-15146085 dbVar; chr20:14927205-15219198 dbVar; chr20:14977746-15197765 dbVar; chr20:15046370-15163731 dbVar; chr20:15065174-15165016 dbVar; chr20:15120132-15155311 dbVar po_B_loss_someG_coord : chr20:14677820-15136935 dbVar; chr20:14868497-15175922 dbVar; chr20:14887414-15258760 dbVar; chr20:14923608-15194779 dbVar; chr20:14950413-15255019 dbVar; chr20:15006063-15130589 dbVar; chr20:15055540-15164070 dbVar; chr20:15093012-15159337 dbVar |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:15125689-15126399 Repeat_type_left : L1MB7 Gap_left : . GC_content_left : 0.330 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:15125689-15126399 Repeat_type_right : L1MB7 Gap_right : . GC_content_right : 0.325 |
CHM13,HG01071,HG01106,HG01123,HG01175,HG01978[...]Samples_ID : CHM13,HG01071,HG01106,HG01123,HG01175,HG01978,HG02148,NA20129 |
>72932926>72932928ID : >72932926>72932928 |
TREF : T |
TTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCG[...]ALT : TTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGGTCTGTTTTCT |
60QUAL : 60 |
.FILTER : . |
AC=8; AF=0.0898876; AN=89; AT=>72932926>[...]INFO : AC=8; AF=0.0898876; AN=89; AT=>72932926>72932928,>72932926<72932927>72932928; LV=0; NS=45; e=15125961; s=291; rC=SINE/Alu |
GTFORMAT : GT |
0CHM13 : 0 |
0|0HG00438 : 0|0 |
0|0HG00621 : 0|0 |
0|0HG00673 : 0|0 |
0|0HG00733 : 0|0 |
0|0HG00735 : 0|0 |
0|0HG00741 : 0|0 |
0|1HG01071 : 0|1 |
1|0HG01106 : 1|0 |
0|0HG01109 : 0|0 |
1|1HG01123 : 1|1 |
0|1HG01175 : 0|1 |
0|0HG01243 : 0|0 |
0|0HG01258 : 0|0 |
0|0HG01358 : 0|0 |
0|0HG01361 : 0|0 |
0|0HG01891 : 0|0 |
0|0HG01928 : 0|0 |
0|0HG01952 : 0|0 |
1|0HG01978 : 1|0 |
0|0HG02055 : 0|0 |
0|0HG02080 : 0|0 |
0|0HG02109 : 0|0 |
0|0HG02145 : 0|0 |
1|0HG02148 : 1|0 |
0|0HG02257 : 0|0 |
0|0HG02486 : 0|0 |
0|0HG02559 : 0|0 |
0|0HG02572 : 0|0 |
0|0HG02622 : 0|0 |
0|0HG02630 : 0|0 |
0|0HG02717 : 0|0 |
0|0HG02723 : 0|0 |
0|0HG02818 : 0|0 |
0|0HG02886 : 0|0 |
0|0HG03098 : 0|0 |
0|0HG03453 : 0|0 |
0|0HG03486 : 0|0 |
0|0HG03492 : 0|0 |
0|0HG03516 : 0|0 |
0|0HG03540 : 0|0 |
0|0HG03579 : 0|0 |
0|0NA18906 : 0|0 |
0|1NA20129 : 0|1 |
0|0NA21309 : 0|0 |
|
full=NAACMG_class : full=NA |
INSSV_type : INS SV_length : 291 |
splitAnnotation_mode : split |
MACROD2Gene_name : MACROD2; LOEUF_bin : 2 GnomAD_pLI : 4.3472e-01 ExAC_pLI : 1.1357e-02 HI : . TS : . DDD_HI_percent : 1.49 ACMG : . ExAC_cnvZ : -0.692742758341261 ExAC_delZ : -1.18278709618643 ExAC_dupZ : -0.597815534527543 ExAC_synZ : 0.337580800459273 ExAC_misZ : 0.372539789325987 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 140733 |
intron5-intron5Location : intron5-intron5 CytoBand : p12.1 Location2 : CDS Tx : NM_001351661 Tx_version : 2 Tx_start : 13995515 Tx_end : 16053197 Exon_count : 18 Overlapped_tx_length : 1 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 103978 Nearest_SS_type : 3' Intersect_start : 15125960 Intersect_end : 15125961 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . B_loss_source : dbVar B_loss_coord : chr20:14677820-15136935; chr20:14792038-15215728; chr20:14868497-15175922; chr20:14869088-15218497; chr20:14887414-15258760; chr20:14903118-15146085; chr20:14923608-15194779; chr20:14927205-15219198; chr20:14950413-15255019; chr20:14977746-15197765; chr20:15006063-15130589; chr20:15046370-15163731; chr20:15055540-15164070; chr20:15065174-15165016; chr20:15093012-15159337; chr20:15120132-15155311 B_loss_AFmax : 0.01 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
CHM13,HG01071,HG01106,HG01123,HG01175,HG01978[...]Samples_ID : CHM13,HG01071,HG01106,HG01123,HG01175,HG01978,HG02148,NA20129 |
>72932926>72932928ID : >72932926>72932928 |
TREF : T |
TTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCG[...]ALT : TTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGGTCTGTTTTCT |
60QUAL : 60 |
.FILTER : . |
AC=8; AF=0.0898876; AN=89; AT=>72932926>[...]INFO : AC=8; AF=0.0898876; AN=89; AT=>72932926>72932928,>72932926<72932927>72932928; LV=0; NS=45; e=15125961; s=291; rC=SINE/Alu |
GTFORMAT : GT |
0CHM13 : 0 |
0|0HG00438 : 0|0 |
0|0HG00621 : 0|0 |
0|0HG00673 : 0|0 |
0|0HG00733 : 0|0 |
0|0HG00735 : 0|0 |
0|0HG00741 : 0|0 |
0|1HG01071 : 0|1 |
1|0HG01106 : 1|0 |
0|0HG01109 : 0|0 |
1|1HG01123 : 1|1 |
0|1HG01175 : 0|1 |
0|0HG01243 : 0|0 |
0|0HG01258 : 0|0 |
0|0HG01358 : 0|0 |
0|0HG01361 : 0|0 |
0|0HG01891 : 0|0 |
0|0HG01928 : 0|0 |
0|0HG01952 : 0|0 |
1|0HG01978 : 1|0 |
0|0HG02055 : 0|0 |
0|0HG02080 : 0|0 |
0|0HG02109 : 0|0 |
0|0HG02145 : 0|0 |
1|0HG02148 : 1|0 |
0|0HG02257 : 0|0 |
0|0HG02486 : 0|0 |
0|0HG02559 : 0|0 |
0|0HG02572 : 0|0 |
0|0HG02622 : 0|0 |
0|0HG02630 : 0|0 |
0|0HG02717 : 0|0 |
0|0HG02723 : 0|0 |
0|0HG02818 : 0|0 |
0|0HG02886 : 0|0 |
0|0HG03098 : 0|0 |
0|0HG03453 : 0|0 |
0|0HG03486 : 0|0 |
0|0HG03492 : 0|0 |
0|0HG03516 : 0|0 |
0|0HG03540 : 0|0 |
0|0HG03579 : 0|0 |
0|0NA18906 : 0|0 |
0|1NA20129 : 0|1 |
0|0NA21309 : 0|0 |
|
NAACMG_class : NA AnnotSV_ranking_score : . AnnotSV_ranking_criteria : . |
INSSV_type : INS SV_length : 334 Gene_count : 1 |
fullAnnotation_mode : full |
ANKFN1Gene_name : ANKFN1; LOEUF_bin : 4 GnomAD_pLI : 2.0906e-10 ExAC_pLI : 4.0310e-06 HI : . TS : . DDD_HI_percent : 8.53 ExAC_cnvZ : 1.57613349745263 ExAC_delZ : 1.16927798497682 ExAC_dupZ : 1.32018461217587 ExAC_synZ : 0.359395492739693 ExAC_misZ : -0.11684939274523 Closest_left : LOC124904035 Closest_right : LOC112268194 |
.Location : . CytoBand : q22 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_gain_phen : . po_P_gain_hpo : . po_P_gain_source : dbVar:nssv15149908; nssv15152170; dbVar:nssv15159024; dbVar:nssv15160732; dbVar:nssv15159027; dbVar:nssv15127236; dbVar:nssv15146325; dbVar:nssv15147369; dbVar:nssv15149626; dbVar:nssv15149031; dbVar:nssv15150484 po_P_gain_coord : 17:150734-83084062; 17:157424-83100564; 17:158757-83102004; 17:162554-83100251; 17:16854250-83103577; 17:36449221-68170214; 17:36449221-75053130; 17:44503317-83137846; 17:50999620-60663584; 17:54111691-59399801 po_P_gain_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00 po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15127168; dbVar:nssv15132970; dbVar:nssv16297148 po_P_loss_coord : 17:36382249-83103577; 17:49974534-56807609; 17:56212740-56767533 po_P_loss_percent : 0.00; 0.00; 0.00 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_gain_allG_source : . po_B_gain_allG_coord : . po_B_gain_someG_source : . po_B_gain_someG_coord : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : . Repeat_type_left : . Gap_left : . GC_content_left : 0.415 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : . Repeat_type_right : . Gap_right : . GC_content_right : 0.415 |
CHM13,NA20129Samples_ID : CHM13,NA20129 |
>66684236>66684238ID : >66684236>66684238 |
GREF : G |
GTTGCTTTCGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC[...]ALT : GTTGCTTTCGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAATATACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCTGAGATTGCGCCACTGCAGTCCGCAGTCTGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAG |
60QUAL : 60 |
.FILTER : . |
AC=1; AF=0.011236; AN=89; AT=>66684236>[...]INFO : AC=1; AF=0.011236; AN=89; AT=>66684236>66684238,>66684236>66684237>66684238; LV=0; NS=45; e=56462078; s=334; rC=SINE/Alu |
GTFORMAT : GT |
0CHM13 : 0 |
0|0HG00438 : 0|0 |
0|0HG00621 : 0|0 |
0|0HG00673 : 0|0 |
0|0HG00733 : 0|0 |
0|0HG00735 : 0|0 |
0|0HG00741 : 0|0 |
0|0HG01071 : 0|0 |
0|0HG01106 : 0|0 |
0|0HG01109 : 0|0 |
0|0HG01123 : 0|0 |
0|0HG01175 : 0|0 |
0|0HG01243 : 0|0 |
0|0HG01258 : 0|0 |
0|0HG01358 : 0|0 |
0|0HG01361 : 0|0 |
0|0HG01891 : 0|0 |
0|0HG01928 : 0|0 |
0|0HG01952 : 0|0 |
0|0HG01978 : 0|0 |
0|0HG02055 : 0|0 |
0|0HG02080 : 0|0 |
0|0HG02109 : 0|0 |
0|0HG02145 : 0|0 |
0|0HG02148 : 0|0 |
0|0HG02257 : 0|0 |
0|0HG02486 : 0|0 |
0|0HG02559 : 0|0 |
0|0HG02572 : 0|0 |
0|0HG02622 : 0|0 |
0|0HG02630 : 0|0 |
0|0HG02717 : 0|0 |
0|0HG02723 : 0|0 |
0|0HG02818 : 0|0 |
0|0HG02886 : 0|0 |
0|0HG03098 : 0|0 |
0|0HG03453 : 0|0 |
0|0HG03486 : 0|0 |
0|0HG03492 : 0|0 |
0|0HG03516 : 0|0 |
0|0HG03540 : 0|0 |
0|0HG03579 : 0|0 |
0|0NA18906 : 0|0 |
1|0NA20129 : 1|0 |
0|0NA21309 : 0|0 |
|
full=NAACMG_class : full=NA |
INSSV_type : INS SV_length : 334 |
splitAnnotation_mode : split |
ANKFN1Gene_name : ANKFN1; LOEUF_bin : 4 GnomAD_pLI : 2.0906e-10 ExAC_pLI : 4.0310e-06 HI : . TS : . DDD_HI_percent : 8.53 ACMG : . ExAC_cnvZ : 1.57613349745263 ExAC_delZ : 1.16927798497682 ExAC_dupZ : 1.32018461217587 ExAC_synZ : 0.359395492739693 ExAC_misZ : -0.11684939274523 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 162282 |
intron13-intron13Location : intron13-intron13 CytoBand : q22 Location2 : CDS Tx : XM_047435502 Tx_version : 1 Tx_start : 56046076 Tx_end : 56517016 Exon_count : 20 Overlapped_tx_length : 1 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 4098 Nearest_SS_type : 5' Intersect_start : 56462077 Intersect_end : 56462078 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
CHM13,NA20129Samples_ID : CHM13,NA20129 |
>66684236>66684238ID : >66684236>66684238 |
GREF : G |
GTTGCTTTCGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC[...]ALT : GTTGCTTTCGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAATATACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCTGAGATTGCGCCACTGCAGTCCGCAGTCTGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAG |
60QUAL : 60 |
.FILTER : . |
AC=1; AF=0.011236; AN=89; AT=>66684236>[...]INFO : AC=1; AF=0.011236; AN=89; AT=>66684236>66684238,>66684236>66684237>66684238; LV=0; NS=45; e=56462078; s=334; rC=SINE/Alu |
GTFORMAT : GT |
0CHM13 : 0 |
0|0HG00438 : 0|0 |
0|0HG00621 : 0|0 |
0|0HG00673 : 0|0 |
0|0HG00733 : 0|0 |
0|0HG00735 : 0|0 |
0|0HG00741 : 0|0 |
0|0HG01071 : 0|0 |
0|0HG01106 : 0|0 |
0|0HG01109 : 0|0 |
0|0HG01123 : 0|0 |
0|0HG01175 : 0|0 |
0|0HG01243 : 0|0 |
0|0HG01258 : 0|0 |
0|0HG01358 : 0|0 |
0|0HG01361 : 0|0 |
0|0HG01891 : 0|0 |
0|0HG01928 : 0|0 |
0|0HG01952 : 0|0 |
0|0HG01978 : 0|0 |
0|0HG02055 : 0|0 |
0|0HG02080 : 0|0 |
0|0HG02109 : 0|0 |
0|0HG02145 : 0|0 |
0|0HG02148 : 0|0 |
0|0HG02257 : 0|0 |
0|0HG02486 : 0|0 |
0|0HG02559 : 0|0 |
0|0HG02572 : 0|0 |
0|0HG02622 : 0|0 |
0|0HG02630 : 0|0 |
0|0HG02717 : 0|0 |
0|0HG02723 : 0|0 |
0|0HG02818 : 0|0 |
0|0HG02886 : 0|0 |
0|0HG03098 : 0|0 |
0|0HG03453 : 0|0 |
0|0HG03486 : 0|0 |
0|0HG03492 : 0|0 |
0|0HG03516 : 0|0 |
0|0HG03540 : 0|0 |
0|0HG03579 : 0|0 |
0|0NA18906 : 0|0 |
1|0NA20129 : 1|0 |
0|0NA21309 : 0|0 |
|
NAACMG_class : NA AnnotSV_ranking_score : . AnnotSV_ranking_criteria : . |
INSSV_type : INS SV_length : 170 Gene_count : 1 |
fullAnnotation_mode : full |
ZNF652Gene_name : ZNF652; LOEUF_bin : 1 GnomAD_pLI : 8.2299e-01 ExAC_pLI : 9.7074e-01 HI : . TS : . DDD_HI_percent : 26.82 ExAC_cnvZ : 0.840702783377249 ExAC_delZ : 0.745565724270845 ExAC_dupZ : 0.596023125514471 ExAC_synZ : 0.00452544152229966 ExAC_misZ : 1.61823238212517 Closest_left : MIR6129 Closest_right : LOC124904111 |
.Location : . CytoBand : q21.33 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_gain_phen : . po_P_gain_hpo : . po_P_gain_source : dbVar:nssv15149908; nssv15152170; dbVar:nssv15159024; dbVar:nssv15160732; dbVar:nssv15159027; dbVar:nssv15127236; dbVar:nssv15146325; dbVar:nssv15147369; dbVar:nssv15149626 po_P_gain_coord : 17:150734-83084062; 17:157424-83100564; 17:158757-83102004; 17:162554-83100251; 17:16854250-83103577; 17:36449221-68170214; 17:36449221-75053130; 17:44503317-83137846 po_P_gain_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00 po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15127168; dbVar:nssv15146046; dbVar:nssv15151905; dbVar:nssv15146525; dbVar:nssv15120738 po_P_loss_coord : 17:36382249-83103577; 17:47986887-49329397; 17:48403728-53319007; 17:48520886-49511208; 17:49137865-52147810 po_P_loss_percent : 0.00; 0.00; 0.00; 0.00; 0.00 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_gain_allG_source : . po_B_gain_allG_coord : . po_B_gain_someG_source : . po_B_gain_someG_coord : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 17:49320861-49321013; 17:49321044-49321219 Repeat_type_left : AluSx; MLT1I Gap_left : . GC_content_left : 0.535 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 17:49320861-49321013; 17:49321044-49321219 Repeat_type_right : AluSx; MLT1I Gap_right : . GC_content_right : 0.535 |
CHM13,HG03453,HG03540,NA21309Samples_ID : CHM13,HG03453,HG03540,NA21309 |
>66520653>66520655ID : >66520653>66520655 |
GREF : G |
GTCTCAGCCTCTGGAGTAGCTGGGGCCATAGGTGCATACCACCAT[...]ALT : GTCTCAGCCTCTGGAGTAGCTGGGGCCATAGGTGCATACCACCATGCCCAGCTCTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCACCCAGGCTAGAGTGCAGTGGTGCAATCTTGGCTCACTGCAAACTCCGCCTCCCGGGTTCAAGCAATTCTCCTG |
60QUAL : 60 |
.FILTER : . |
AC=3; AF=0.0337079; AN=89; AT=>66520653>[...]INFO : AC=3; AF=0.0337079; AN=89; AT=>66520653>66520655,>66520653<66520654>66520655; LV=0; NS=45; e=49320962; s=170; rC=SINE/Alu |
GTFORMAT : GT |
0CHM13 : 0 |
0|0HG00438 : 0|0 |
0|0HG00621 : 0|0 |
0|0HG00673 : 0|0 |
0|0HG00733 : 0|0 |
0|0HG00735 : 0|0 |
0|0HG00741 : 0|0 |
0|0HG01071 : 0|0 |
0|0HG01106 : 0|0 |
0|0HG01109 : 0|0 |
0|0HG01123 : 0|0 |
0|0HG01175 : 0|0 |
0|0HG01243 : 0|0 |
0|0HG01258 : 0|0 |
0|0HG01358 : 0|0 |
0|0HG01361 : 0|0 |
0|0HG01891 : 0|0 |
0|0HG01928 : 0|0 |
0|0HG01952 : 0|0 |
0|0HG01978 : 0|0 |
0|0HG02055 : 0|0 |
0|0HG02080 : 0|0 |
0|0HG02109 : 0|0 |
0|0HG02145 : 0|0 |
0|0HG02148 : 0|0 |
0|0HG02257 : 0|0 |
0|0HG02486 : 0|0 |
0|0HG02559 : 0|0 |
0|0HG02572 : 0|0 |
0|0HG02622 : 0|0 |
0|0HG02630 : 0|0 |
0|0HG02717 : 0|0 |
0|0HG02723 : 0|0 |
0|0HG02818 : 0|0 |
0|0HG02886 : 0|0 |
0|0HG03098 : 0|0 |
0|1HG03453 : 0|1 |
0|0HG03486 : 0|0 |
0|0HG03492 : 0|0 |
0|0HG03516 : 0|0 |
1|0HG03540 : 1|0 |
0|0HG03579 : 0|0 |
0|0NA18906 : 0|0 |
0|0NA20129 : 0|0 |
1|0NA21309 : 1|0 |
|
full=NAACMG_class : full=NA |
INSSV_type : INS SV_length : 170 |
splitAnnotation_mode : split |
ZNF652Gene_name : ZNF652; LOEUF_bin : 1 GnomAD_pLI : 8.2299e-01 ExAC_pLI : 9.7074e-01 HI : . TS : . DDD_HI_percent : 26.82 ACMG : . ExAC_cnvZ : 0.840702783377249 ExAC_delZ : 0.745565724270845 ExAC_dupZ : 0.596023125514471 ExAC_synZ : 0.00452544152229966 ExAC_misZ : 1.61823238212517 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 22834 |
intron1-intron1Location : intron1-intron1 CytoBand : q21.33 Location2 : UTR Tx : XR_934423 Tx_version : 3 Tx_start : 49288116 Tx_end : 49322508 Exon_count : 7 Overlapped_tx_length : 1 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 1422 Nearest_SS_type : 5' Intersect_start : 49320961 Intersect_end : 49320962 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
CHM13,HG03453,HG03540,NA21309Samples_ID : CHM13,HG03453,HG03540,NA21309 |
>66520653>66520655ID : >66520653>66520655 |
GREF : G |
GTCTCAGCCTCTGGAGTAGCTGGGGCCATAGGTGCATACCACCAT[...]ALT : GTCTCAGCCTCTGGAGTAGCTGGGGCCATAGGTGCATACCACCATGCCCAGCTCTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCACCCAGGCTAGAGTGCAGTGGTGCAATCTTGGCTCACTGCAAACTCCGCCTCCCGGGTTCAAGCAATTCTCCTG |
60QUAL : 60 |
.FILTER : . |
AC=3; AF=0.0337079; AN=89; AT=>66520653>[...]INFO : AC=3; AF=0.0337079; AN=89; AT=>66520653>66520655,>66520653<66520654>66520655; LV=0; NS=45; e=49320962; s=170; rC=SINE/Alu |
GTFORMAT : GT |
0CHM13 : 0 |
0|0HG00438 : 0|0 |
0|0HG00621 : 0|0 |
0|0HG00673 : 0|0 |
0|0HG00733 : 0|0 |
0|0HG00735 : 0|0 |
0|0HG00741 : 0|0 |
0|0HG01071 : 0|0 |
0|0HG01106 : 0|0 |
0|0HG01109 : 0|0 |
0|0HG01123 : 0|0 |
0|0HG01175 : 0|0 |
0|0HG01243 : 0|0 |
0|0HG01258 : 0|0 |
0|0HG01358 : 0|0 |
0|0HG01361 : 0|0 |
0|0HG01891 : 0|0 |
0|0HG01928 : 0|0 |
0|0HG01952 : 0|0 |
0|0HG01978 : 0|0 |
0|0HG02055 : 0|0 |
0|0HG02080 : 0|0 |
0|0HG02109 : 0|0 |
0|0HG02145 : 0|0 |
0|0HG02148 : 0|0 |
0|0HG02257 : 0|0 |
0|0HG02486 : 0|0 |
0|0HG02559 : 0|0 |
0|0HG02572 : 0|0 |
0|0HG02622 : 0|0 |
0|0HG02630 : 0|0 |
0|0HG02717 : 0|0 |
0|0HG02723 : 0|0 |
0|0HG02818 : 0|0 |
0|0HG02886 : 0|0 |
0|0HG03098 : 0|0 |
0|1HG03453 : 0|1 |
0|0HG03486 : 0|0 |
0|0HG03492 : 0|0 |
0|0HG03516 : 0|0 |
1|0HG03540 : 1|0 |
0|0HG03579 : 0|0 |
0|0NA18906 : 0|0 |
0|0NA20129 : 0|0 |
1|0NA21309 : 1|0 |
|
NAACMG_class : NA AnnotSV_ranking_score : . AnnotSV_ranking_criteria : . |
INSSV_type : INS SV_length : 314 Gene_count : 1 |
fullAnnotation_mode : full |
ZNF287Gene_name : ZNF287; LOEUF_bin : 1 GnomAD_pLI : 5.8262e-01 ExAC_pLI : 6.0866e-01 HI : . TS : . DDD_HI_percent : 58.74 ExAC_cnvZ : 0.13332005481667 ExAC_delZ : 0.78157074932864 ExAC_dupZ : -0.151957839418458 ExAC_synZ : -0.803851233767045 ExAC_misZ : 2.22969754584447 Closest_left : LOC105371554 Closest_right : ZNF624 |
.Location : . CytoBand : p11.2 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_gain_phen : . po_P_gain_hpo : . po_P_gain_source : dbVar:nssv15149908; nssv15152170; dbVar:nssv15159024; dbVar:nssv15160732; dbVar:nssv15159027; dbVar:nssv15121114; dbVar:nssv17976715; dbVar:nssv15134920; dbVar:nssv15132415; dbVar:nssv15133505; dbVar:nssv15138295; dbVar:nssv15128226; dbVar:nssv15124254; dbVar:nssv15173356; dbVar:nssv15139336 po_P_gain_coord : 17:150734-83084062; 17:157424-83100564; 17:158757-83102004; 17:162554-83100251; 17:10892260-17964282; 17:11915998-17892664; 17:15210401-18280816; 17:15234686-20620700; 17:15259165-20925299; 17:15552363-19014200; 17:15809697-20678097; 17:15863707-20357937; 17:15892827-20427818; 17:16426634-20998588 po_P_gain_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00 po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15137984; dbVar:nssv16208495; dbVar:nssv15139902; dbVar:nssv15132502; dbVar:nssv15140983; dbVar:nssv15139942; dbVar:nssv15127517; dbVar:nssv15137280; dbVar:nssv15138740; dbVar:nssv15132261; dbVar:nssv16254273; dbVar:nssv15121491; dbVar:nssv15121492 po_P_loss_coord : 17:15066800-17472457; 17:15729118-18823076; 17:15729894-20510251; 17:15776916-18771753; 17:15842002-20357878; 17:15850860-20649235; 17:15860439-20712095; 17:15883038-20620700; 17:15883038-20658018; 17:15898033-20620700; 17:15906702-18634123; 17:15952072-18362819; 17:16117886-18362819 po_P_loss_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00 |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_gain_source : dbVar B_gain_coord : chr17:15775685-16723886; chr17:16455941-16582580 B_gain_AFmax : 0.01 B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_gain_allG_source : . po_B_gain_allG_coord : . po_B_gain_someG_source : chr17:16455941-16582580 dbVar po_B_gain_someG_coord : chr17:15775685-16723886 dbVar po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : . Repeat_type_left : . Gap_left : . GC_content_left : 0.365 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : . Repeat_type_right : . Gap_right : . GC_content_right : 0.370 |
CHM13,HG03516Samples_ID : CHM13,HG03516 |
>68308651>68308653ID : >68308651>68308653 |
TREF : T |
TTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGC[...]ALT : TTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGCTCAAAGTTT |
60QUAL : 60 |
.FILTER : . |
AC=1; AF=0.011236; AN=89; AT=>68308651>[...]INFO : AC=1; AF=0.011236; AN=89; AT=>68308651>68308653,>68308651<68308652>68308653; LV=0; NS=45; e=16563289; s=314; rC=SINE/Alu |
GTFORMAT : GT |
0CHM13 : 0 |
0|0HG00438 : 0|0 |
0|0HG00621 : 0|0 |
0|0HG00673 : 0|0 |
0|0HG00733 : 0|0 |
0|0HG00735 : 0|0 |
0|0HG00741 : 0|0 |
0|0HG01071 : 0|0 |
0|0HG01106 : 0|0 |
0|0HG01109 : 0|0 |
0|0HG01123 : 0|0 |
0|0HG01175 : 0|0 |
0|0HG01243 : 0|0 |
0|0HG01258 : 0|0 |
0|0HG01358 : 0|0 |
0|0HG01361 : 0|0 |
0|0HG01891 : 0|0 |
0|0HG01928 : 0|0 |
0|0HG01952 : 0|0 |
0|0HG01978 : 0|0 |
0|0HG02055 : 0|0 |
0|0HG02080 : 0|0 |
0|0HG02109 : 0|0 |
0|0HG02145 : 0|0 |
0|0HG02148 : 0|0 |
0|0HG02257 : 0|0 |
0|0HG02486 : 0|0 |
0|0HG02559 : 0|0 |
0|0HG02572 : 0|0 |
0|0HG02622 : 0|0 |
0|0HG02630 : 0|0 |
0|0HG02717 : 0|0 |
0|0HG02723 : 0|0 |
0|0HG02818 : 0|0 |
0|0HG02886 : 0|0 |
0|0HG03098 : 0|0 |
0|0HG03453 : 0|0 |
0|0HG03486 : 0|0 |
0|0HG03492 : 0|0 |
1|0HG03516 : 1|0 |
0|0HG03540 : 0|0 |
0|0HG03579 : 0|0 |
0|0NA18906 : 0|0 |
0|0NA20129 : 0|0 |
0|0NA21309 : 0|0 |
|
full=NAACMG_class : full=NA |
INSSV_type : INS SV_length : 314 |
splitAnnotation_mode : split |
ZNF287Gene_name : ZNF287; LOEUF_bin : 1 GnomAD_pLI : 5.8262e-01 ExAC_pLI : 6.0866e-01 HI : . TS : . DDD_HI_percent : 58.74 ACMG : . ExAC_cnvZ : 0.13332005481667 ExAC_delZ : 0.78157074932864 ExAC_dupZ : -0.151957839418458 ExAC_synZ : -0.803851233767045 ExAC_misZ : 2.22969754584447 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 57336 |
intron4-intron4Location : intron4-intron4 CytoBand : p11.2 Location2 : CDS Tx : NM_001346167 Tx_version : 2 Tx_start : 16546953 Tx_end : 16569204 Exon_count : 6 Overlapped_tx_length : 1 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 56 Nearest_SS_type : 3' Intersect_start : 16563288 Intersect_end : 16563289 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_gain_source : dbVar B_gain_coord : chr17:15775685-16723886; chr17:16455941-16582580 B_gain_AFmax : 0.01 B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
CHM13,HG03516Samples_ID : CHM13,HG03516 |
>68308651>68308653ID : >68308651>68308653 |
TREF : T |
TTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGC[...]ALT : TTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGCTCAAAGTTT |
60QUAL : 60 |
.FILTER : . |
AC=1; AF=0.011236; AN=89; AT=>68308651>[...]INFO : AC=1; AF=0.011236; AN=89; AT=>68308651>68308653,>68308651<68308652>68308653; LV=0; NS=45; e=16563289; s=314; rC=SINE/Alu |
GTFORMAT : GT |
0CHM13 : 0 |
0|0HG00438 : 0|0 |
0|0HG00621 : 0|0 |
0|0HG00673 : 0|0 |
0|0HG00733 : 0|0 |
0|0HG00735 : 0|0 |
0|0HG00741 : 0|0 |
0|0HG01071 : 0|0 |
0|0HG01106 : 0|0 |
0|0HG01109 : 0|0 |
0|0HG01123 : 0|0 |
0|0HG01175 : 0|0 |
0|0HG01243 : 0|0 |
0|0HG01258 : 0|0 |
0|0HG01358 : 0|0 |
0|0HG01361 : 0|0 |
0|0HG01891 : 0|0 |
0|0HG01928 : 0|0 |
0|0HG01952 : 0|0 |
0|0HG01978 : 0|0 |
0|0HG02055 : 0|0 |
0|0HG02080 : 0|0 |
0|0HG02109 : 0|0 |
0|0HG02145 : 0|0 |
0|0HG02148 : 0|0 |
0|0HG02257 : 0|0 |
0|0HG02486 : 0|0 |
0|0HG02559 : 0|0 |
0|0HG02572 : 0|0 |
0|0HG02622 : 0|0 |
0|0HG02630 : 0|0 |
0|0HG02717 : 0|0 |
0|0HG02723 : 0|0 |
0|0HG02818 : 0|0 |
0|0HG02886 : 0|0 |
0|0HG03098 : 0|0 |
0|0HG03453 : 0|0 |
0|0HG03486 : 0|0 |
0|0HG03492 : 0|0 |
1|0HG03516 : 1|0 |
0|0HG03540 : 0|0 |
0|0HG03579 : 0|0 |
0|0NA18906 : 0|0 |
0|0NA20129 : 0|0 |
0|0NA21309 : 0|0 |
|
NAACMG_class : NA AnnotSV_ranking_score : . AnnotSV_ranking_criteria : . |
INSSV_type : INS SV_length : 144 Gene_count : 1 |
fullAnnotation_mode : full |
.Location : . CytoBand : q32.11 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
TTC8 (morbid/RE=GH_enhancer); RE_gene : TTC8 (morbid/RE=GH_enhancer); |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_gain_phen : . po_P_gain_hpo : . po_P_gain_source : dbVar:nssv15162475; dbVar:nssv15161908; dbVar:nssv15162476; dbVar:nssv15161629; dbVar:nssv15161107; nssv15161424; dbVar:nssv15161067; dbVar:nssv17976728; dbVar:nssv15161689; dbVar:nssv15161760; dbVar:nssv15161081; dbVar:nssv18329607; dbVar:nssv18330720; dbVar:nssv15161039 po_P_gain_coord : 14:18223946-106880863; 14:18504257-106879456; 14:18551347-106879456; 14:19652446-106826050; 14:20043515-106877229; 14:20151150-106855263; 14:37201854-106530013; 14:73284034-106877229; 14:73655773-106879298; 14:77222796-106879298; 14:81127365-96592939; 14:84071159-106877229; 14:86094031-106832642 po_P_gain_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00 po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15154706; dbVar:nssv16206456; dbVar:nssv17969653; dbVar:nssv18830720 po_P_loss_coord : 14:84316794-96441861; 14:84317180-96441153; 14:87879282-94140555; 14:87934733-94140555 po_P_loss_percent : 0.00; 0.00; 0.00; 0.00 |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_gain_source : dbVar B_gain_coord : chr14:89412507-89616461 B_gain_AFmax : 0.01 B_loss_source : gnomAD-SV_v3_DEL_chr14_aa7bf92b B_loss_coord : chr14:56471274-99420950 B_loss_AFmax : 0.6330 po_B_gain_allG_source : . po_B_gain_allG_coord : . po_B_gain_someG_source : . po_B_gain_someG_coord : chr14:89412507-89616461 dbVar po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : chr14:56471274-99420950 gnomAD-SV_v3_DEL_chr14_aa7bf92b |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 14:89607984-89608295; 14:89608296-89608439 Repeat_type_left : AluY; AluSc Gap_left : . GC_content_left : 0.570 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 14:89607984-89608295; 14:89608296-89608439 Repeat_type_right : AluY; AluSc Gap_right : . GC_content_right : 0.565 |
CHM13,HG00438,HG00621,HG00673,HG00733,HG00735[...]Samples_ID : CHM13,HG00438,HG00621,HG00673,HG00733,HG00735,HG00741,HG01071,HG01106,HG01109,HG01123,HG01175,HG01243,HG01258,HG01358,HG01361,HG01891,HG01928,HG01952,HG01978,HG02055,HG02080,HG02109,HG02145,HG02148,HG02257,HG02622,HG02630,HG02723,HG02818,HG02886,HG03098,HG03453,HG03486,HG03492,HG03516,HG03540,HG03579,NA18906,NA20129 |
>59218275>59218277ID : >59218275>59218277 |
GREF : G |
GATAATTTTTGTATTTTTAGTACAGACAGGGTTTCACCATGTTGG[...]ALT : GATAATTTTTGTATTTTTAGTACAGACAGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCCCGACCTCGTGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCAGCCAACACCCAG |
60QUAL : 60 |
.FILTER : . |
AC=70; AF=0.786517; AN=89; AT=>59218275>[...]INFO : AC=70; AF=0.786517; AN=89; AT=>59218275>59218277,>59218275>59218276>59218277; LV=0; NS=45; e=89608304; s=144; rC=SINE/Alu |
GTFORMAT : GT |
1CHM13 : 1 |
1|1HG00438 : 1|1 |
1|1HG00621 : 1|1 |
1|1HG00673 : 1|1 |
1|1HG00733 : 1|1 |
1|1HG00735 : 1|1 |
1|1HG00741 : 1|1 |
1|1HG01071 : 1|1 |
1|1HG01106 : 1|1 |
1|1HG01109 : 1|1 |
1|1HG01123 : 1|1 |
1|1HG01175 : 1|1 |
1|1HG01243 : 1|1 |
1|1HG01258 : 1|1 |
1|1HG01358 : 1|1 |
1|1HG01361 : 1|1 |
1|1HG01891 : 1|1 |
1|1HG01928 : 1|1 |
1|1HG01952 : 1|1 |
1|1HG01978 : 1|1 |
1|0HG02055 : 1|0 |
1|1HG02080 : 1|1 |
1|0HG02109 : 1|0 |
1|0HG02145 : 1|0 |
1|1HG02148 : 1|1 |
0|1HG02257 : 0|1 |
0|0HG02486 : 0|0 |
0|0HG02559 : 0|0 |
0|0HG02572 : 0|0 |
0|1HG02622 : 0|1 |
1|1HG02630 : 1|1 |
0|0HG02717 : 0|0 |
1|0HG02723 : 1|0 |
1|1HG02818 : 1|1 |
0|1HG02886 : 0|1 |
1|0HG03098 : 1|0 |
1|1HG03453 : 1|1 |
1|1HG03486 : 1|1 |
1|1HG03492 : 1|1 |
1|1HG03516 : 1|1 |
1|1HG03540 : 1|1 |
1|1HG03579 : 1|1 |
0|1NA18906 : 0|1 |
1|1NA20129 : 1|1 |
0|0NA21309 : 0|0 |
||
full=NAACMG_class : full=NA |
INSSV_type : INS SV_length : 144 |
splitAnnotation_mode : split |
FOXN3Gene_name : FOXN3; LOEUF_bin : 1 GnomAD_pLI : 9.3167e-01 ExAC_pLI : 9.0780e-01 HI : . TS : . DDD_HI_percent : 7.5 ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : 0.100677520849763 ExAC_misZ : 1.35210584128204 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 1112 |
intron1-intron1Location : intron1-intron1 CytoBand : q32.11 Location2 : 5'UTR Tx : NM_001085471 Tx_version : 2 Tx_start : 89156176 Tx_end : 89619165 Exon_count : 7 Overlapped_tx_length : 1 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 10723 Nearest_SS_type : 5' Intersect_start : 89608303 Intersect_end : 89608304 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_gain_source : dbVar B_gain_coord : chr14:89412507-89616461 B_gain_AFmax : 0.01 B_loss_source : gnomAD-SV_v3_DEL_chr14_aa7bf92b B_loss_coord : chr14:56471274-99420950 B_loss_AFmax : 0.6330 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
CHM13,HG00438,HG00621,HG00673,HG00733,HG00735[...]Samples_ID : CHM13,HG00438,HG00621,HG00673,HG00733,HG00735,HG00741,HG01071,HG01106,HG01109,HG01123,HG01175,HG01243,HG01258,HG01358,HG01361,HG01891,HG01928,HG01952,HG01978,HG02055,HG02080,HG02109,HG02145,HG02148,HG02257,HG02622,HG02630,HG02723,HG02818,HG02886,HG03098,HG03453,HG03486,HG03492,HG03516,HG03540,HG03579,NA18906,NA20129 |
>59218275>59218277ID : >59218275>59218277 |
GREF : G |
GATAATTTTTGTATTTTTAGTACAGACAGGGTTTCACCATGTTGG[...]ALT : GATAATTTTTGTATTTTTAGTACAGACAGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCCCGACCTCGTGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCAGCCAACACCCAG |
60QUAL : 60 |
.FILTER : . |
AC=70; AF=0.786517; AN=89; AT=>59218275>[...]INFO : AC=70; AF=0.786517; AN=89; AT=>59218275>59218277,>59218275>59218276>59218277; LV=0; NS=45; e=89608304; s=144; rC=SINE/Alu |
GTFORMAT : GT |
1CHM13 : 1 |
1|1HG00438 : 1|1 |
1|1HG00621 : 1|1 |
1|1HG00673 : 1|1 |
1|1HG00733 : 1|1 |
1|1HG00735 : 1|1 |
1|1HG00741 : 1|1 |
1|1HG01071 : 1|1 |
1|1HG01106 : 1|1 |
1|1HG01109 : 1|1 |
1|1HG01123 : 1|1 |
1|1HG01175 : 1|1 |
1|1HG01243 : 1|1 |
1|1HG01258 : 1|1 |
1|1HG01358 : 1|1 |
1|1HG01361 : 1|1 |
1|1HG01891 : 1|1 |
1|1HG01928 : 1|1 |
1|1HG01952 : 1|1 |
1|1HG01978 : 1|1 |
1|0HG02055 : 1|0 |
1|1HG02080 : 1|1 |
1|0HG02109 : 1|0 |
1|0HG02145 : 1|0 |
1|1HG02148 : 1|1 |
0|1HG02257 : 0|1 |
0|0HG02486 : 0|0 |
0|0HG02559 : 0|0 |
0|0HG02572 : 0|0 |
0|1HG02622 : 0|1 |
1|1HG02630 : 1|1 |
0|0HG02717 : 0|0 |
1|0HG02723 : 1|0 |
1|1HG02818 : 1|1 |
0|1HG02886 : 0|1 |
1|0HG03098 : 1|0 |
1|1HG03453 : 1|1 |
1|1HG03486 : 1|1 |
1|1HG03492 : 1|1 |
1|1HG03516 : 1|1 |
1|1HG03540 : 1|1 |
1|1HG03579 : 1|1 |
0|1NA18906 : 0|1 |
1|1NA20129 : 1|1 |
0|0NA21309 : 0|0 |
|
NAACMG_class : NA AnnotSV_ranking_score : . AnnotSV_ranking_criteria : . |
INSSV_type : INS SV_length : 293 Gene_count : 1 |
fullAnnotation_mode : full |
SRP54-AS1Gene_name : SRP54-AS1; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . Closest_left : BAZ1A-AS1 Closest_right : IGBP1P1 |
.Location : . CytoBand : q13.2 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
PPP2R3C (morbid/RE=EA_enhancer); NFKBIA (morb[...]RE_gene : PPP2R3C (morbid/RE=EA_enhancer); NFKBIA (morbid/RE=EA_enhancer); |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_gain_phen : . po_P_gain_hpo : . po_P_gain_source : dbVar:nssv15162475; dbVar:nssv15161908; dbVar:nssv15162476; dbVar:nssv15161629; dbVar:nssv15146564; dbVar:nssv15146758; dbVar:nssv16207193; dbVar:nssv17976958; dbVar:nssv15148269; dbVar:nssv15161107; nssv15161424; dbVar:nssv15161067; dbVar:nssv15146403 po_P_gain_coord : 14:18223946-106880863; 14:18504257-106879456; 14:18551347-106879456; 14:19652446-106826050; 14:20000612-38984415; 14:20022694-44093672; 14:20043514-44359827; 14:20043514-47012000; 14:20043514-48642042; 14:20043515-106877229; 14:20151150-106855263; 14:30670315-44990595 po_P_gain_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00 po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15145699; dbVar:nssv17976070; dbVar:nssv15145700; dbVar:nssv15148040; dbVar:nssv15146746; dbVar:nssv16867366; dbVar:nssv15125670; dbVar:nssv15148193; dbVar:nssv18786359 po_P_loss_coord : 14:20196946-45284802; 14:20694105-50246884; 14:23548961-41983402; 14:30382555-37712341; 14:30792272-44685131; 14:33139720-44101164; 14:33579942-48879620; 14:33880413-42359485; 14:34435202-36314930 po_P_loss_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00 |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_gain_source : dbVar B_gain_coord : chr14:34815777-34933122 B_gain_AFmax : 0.01 B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_gain_allG_source : . po_B_gain_allG_coord : . po_B_gain_someG_source : . po_B_gain_someG_coord : chr14:34815777-34933122 dbVar po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 14:34928026-34928179; 14:34928259-34928382 Repeat_type_left : L1ME3A; L1MD2 Gap_left : . GC_content_left : 0.315 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 14:34928026-34928179; 14:34928259-34928382 Repeat_type_right : L1ME3A; L1MD2 Gap_right : . GC_content_right : 0.310 |
CHM13,HG01175Samples_ID : CHM13,HG01175 |
>59895093>59895091ID : >59895093>59895091 |
TREF : T |
TACCATGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAA[...]ALT : TACCATGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAAGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACATTT |
60QUAL : 60 |
.FILTER : . |
AC=1; AF=0.011236; AN=89; AT=>59895093>[...]INFO : AC=1; AF=0.011236; AN=89; AT=>59895093>59895091,>59895093<59895092>59895091; CONFLICT=HG01243; LV=0; NS=45; e=34928178; s=293; rC=SINE/Alu |
GTFORMAT : GT |
0CHM13 : 0 |
0|0HG00438 : 0|0 |
0|0HG00621 : 0|0 |
0|0HG00673 : 0|0 |
0|0HG00733 : 0|0 |
0|0HG00735 : 0|0 |
0|0HG00741 : 0|0 |
0|0HG01071 : 0|0 |
0|0HG01106 : 0|0 |
0|0HG01109 : 0|0 |
0|0HG01123 : 0|0 |
1|0HG01175 : 1|0 |
0|0HG01243 : 0|0 |
0|0HG01258 : 0|0 |
0|0HG01358 : 0|0 |
0|0HG01361 : 0|0 |
0|0HG01891 : 0|0 |
0|0HG01928 : 0|0 |
0|0HG01952 : 0|0 |
0|0HG01978 : 0|0 |
0|0HG02055 : 0|0 |
0|0HG02080 : 0|0 |
0|0HG02109 : 0|0 |
0|0HG02145 : 0|0 |
0|0HG02148 : 0|0 |
0|0HG02257 : 0|0 |
0|0HG02486 : 0|0 |
0|0HG02559 : 0|0 |
0|0HG02572 : 0|0 |
0|0HG02622 : 0|0 |
0|0HG02630 : 0|0 |
0|0HG02717 : 0|0 |
0|0HG02723 : 0|0 |
0|0HG02818 : 0|0 |
0|0HG02886 : 0|0 |
0|0HG03098 : 0|0 |
0|0HG03453 : 0|0 |
0|0HG03486 : 0|0 |
0|0HG03492 : 0|0 |
0|0HG03516 : 0|0 |
0|0HG03540 : 0|0 |
0|0HG03579 : 0|0 |
0|0NA18906 : 0|0 |
0|0NA20129 : 0|0 |
0|0NA21309 : 0|0 |
|
full=NAACMG_class : full=NA |
INSSV_type : INS SV_length : 293 |
splitAnnotation_mode : split |
SRP54-AS1Gene_name : SRP54-AS1; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 100506157 |
intron2-intron2Location : intron2-intron2 CytoBand : q13.2 Location2 : UTR Tx : NR_151701 Tx_version : 1 Tx_start : 34916479 Tx_end : 34982566 Exon_count : 5 Overlapped_tx_length : 1 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 6464 Nearest_SS_type : 3' Intersect_start : 34928177 Intersect_end : 34928178 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_gain_source : dbVar B_gain_coord : chr14:34815777-34933122 B_gain_AFmax : 0.01 B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
CHM13,HG01175Samples_ID : CHM13,HG01175 |
>59895093>59895091ID : >59895093>59895091 |
TREF : T |
TACCATGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAA[...]ALT : TACCATGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAAGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACATTT |
60QUAL : 60 |
.FILTER : . |
AC=1; AF=0.011236; AN=89; AT=>59895093>[...]INFO : AC=1; AF=0.011236; AN=89; AT=>59895093>59895091,>59895093<59895092>59895091; CONFLICT=HG01243; LV=0; NS=45; e=34928178; s=293; rC=SINE/Alu |
GTFORMAT : GT |
0CHM13 : 0 |
0|0HG00438 : 0|0 |
0|0HG00621 : 0|0 |
0|0HG00673 : 0|0 |
0|0HG00733 : 0|0 |
0|0HG00735 : 0|0 |
0|0HG00741 : 0|0 |
0|0HG01071 : 0|0 |
0|0HG01106 : 0|0 |
0|0HG01109 : 0|0 |
0|0HG01123 : 0|0 |
1|0HG01175 : 1|0 |
0|0HG01243 : 0|0 |
0|0HG01258 : 0|0 |
0|0HG01358 : 0|0 |
0|0HG01361 : 0|0 |
0|0HG01891 : 0|0 |
0|0HG01928 : 0|0 |
0|0HG01952 : 0|0 |
0|0HG01978 : 0|0 |
0|0HG02055 : 0|0 |
0|0HG02080 : 0|0 |
0|0HG02109 : 0|0 |
0|0HG02145 : 0|0 |
0|0HG02148 : 0|0 |
0|0HG02257 : 0|0 |
0|0HG02486 : 0|0 |
0|0HG02559 : 0|0 |
0|0HG02572 : 0|0 |
0|0HG02622 : 0|0 |
0|0HG02630 : 0|0 |
0|0HG02717 : 0|0 |
0|0HG02723 : 0|0 |
0|0HG02818 : 0|0 |
0|0HG02886 : 0|0 |
0|0HG03098 : 0|0 |
0|0HG03453 : 0|0 |
0|0HG03486 : 0|0 |
0|0HG03492 : 0|0 |
0|0HG03516 : 0|0 |
0|0HG03540 : 0|0 |
0|0HG03579 : 0|0 |
0|0NA18906 : 0|0 |
0|0NA20129 : 0|0 |
0|0NA21309 : 0|0 |
|
NAACMG_class : NA AnnotSV_ranking_score : . AnnotSV_ranking_criteria : . |
INSSV_type : INS SV_length : 119 Gene_count : 1 |
fullAnnotation_mode : full |
LOC101927045Gene_name : LOC101927045; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . Closest_left : SDR39U1 Closest_right : CMA1 |
.Location : . CytoBand : q12 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_gain_phen : . po_P_gain_hpo : . po_P_gain_source : dbVar:nssv15162475; dbVar:nssv15606090; dbVar:nssv15161908; dbVar:nssv15162476; dbVar:nssv15161629; dbVar:nssv15139565; dbVar:nssv15141262; dbVar:nssv15146564; dbVar:nssv15146758; dbVar:nssv16207193; dbVar:nssv17976958; dbVar:nssv15148269; dbVar:nssv15161107; nssv15161424; dbVar:nssv15161067; dbVar:nssv15134537 po_P_gain_coord : 14:18223946-106880863; 14:18324206-28260881; 14:18504257-106879456; 14:18551347-106879456; 14:19652446-106826050; 14:19652446-27299048; 14:19652446-33580008; 14:20000612-38984415; 14:20022694-44093672; 14:20043514-44359827; 14:20043514-47012000; 14:20043514-48642042; 14:20043515-106877229; 14:20151150-106855263; 14:20412588-25018120 po_P_gain_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00 po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15145699; dbVar:nssv17976070; dbVar:nssv15145700; dbVar:nssv15142442; dbVar:nssv15139177 po_P_loss_coord : 14:20196946-45284802; 14:20694105-50246884; 14:23548961-41983402; 14:23864183-30907877; 14:23984066-25374494 po_P_loss_percent : 0.00; 0.00; 0.00; 0.00; 0.00 |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_gain_source : dbVar B_gain_coord : chr14:24444462-24552552 B_gain_AFmax : 0.01 B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_gain_allG_source : . po_B_gain_allG_coord : . po_B_gain_someG_source : . po_B_gain_someG_coord : chr14:24444462-24552552 dbVar po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 14:24472966-24474524 Repeat_type_left : LTR12C Gap_left : . GC_content_left : 0.460 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 14:24472966-24474524 Repeat_type_right : LTR12C Gap_right : . GC_content_right : 0.455 |
CHM13,HG00438,HG00621,HG00673,HG00733,HG00735[...]Samples_ID : CHM13,HG00438,HG00621,HG00673,HG00733,HG00735,HG00741,HG01071,HG01106,HG01109,HG01123,HG01175,HG01243,HG01258,HG01358,HG01361,HG01928,HG01952,HG01978,HG02080,HG02109,HG02145,HG02148,HG02257,HG02559,HG02572,HG02622,HG02717,HG02723,HG03098,HG03486,HG03492,HG03540,NA18906,NA20129,NA21309 |
>60146780>60146777ID : >60146780>60146777 |
CREF : C |
CTAAGGGATTGTAAATAAACCAATCAGCAATCTGTGTCTAGCTCG[...]ALT : CTAAGGGATTGTAAATAAACCAATCAGCAATCTGTGTCTAGCTCGAGGTTTGTAAATGCACCAATCAGCACTCTCTACCTAGCTAATCTGGTGGGGACTTGGAGAACTTTTATGTCTAGC |
60QUAL : 60 |
.FILTER : . |
AC=60; AF=0.674157; AN=89; AT=>60146780>[...]INFO : AC=60; AF=0.674157; AN=89; AT=>60146780>60146777,>60146780>60146779>60146778>60146777; LV=0; NS=45; e=24473766; s=119; rC=LTR/ERV |
GTFORMAT : GT |
1CHM13 : 1 |
1|1HG00438 : 1|1 |
1|1HG00621 : 1|1 |
1|1HG00673 : 1|1 |
1|1HG00733 : 1|1 |
1|1HG00735 : 1|1 |
1|1HG00741 : 1|1 |
1|1HG01071 : 1|1 |
1|1HG01106 : 1|1 |
1|1HG01109 : 1|1 |
1|1HG01123 : 1|1 |
1|1HG01175 : 1|1 |
1|0HG01243 : 1|0 |
1|1HG01258 : 1|1 |
1|1HG01358 : 1|1 |
1|1HG01361 : 1|1 |
0|0HG01891 : 0|0 |
1|1HG01928 : 1|1 |
1|1HG01952 : 1|1 |
1|1HG01978 : 1|1 |
0|0HG02055 : 0|0 |
1|1HG02080 : 1|1 |
1|1HG02109 : 1|1 |
0|1HG02145 : 0|1 |
1|1HG02148 : 1|1 |
0|1HG02257 : 0|1 |
0|0HG02486 : 0|0 |
1|0HG02559 : 1|0 |
1|1HG02572 : 1|1 |
1|1HG02622 : 1|1 |
0|0HG02630 : 0|0 |
0|1HG02717 : 0|1 |
1|1HG02723 : 1|1 |
0|0HG02818 : 0|0 |
0|0HG02886 : 0|0 |
1|1HG03098 : 1|1 |
0|0HG03453 : 0|0 |
1|0HG03486 : 1|0 |
0|1HG03492 : 0|1 |
0|0HG03516 : 0|0 |
1|0HG03540 : 1|0 |
0|0HG03579 : 0|0 |
0|1NA18906 : 0|1 |
0|1NA20129 : 0|1 |
1|0NA21309 : 1|0 |
|
full=NAACMG_class : full=NA |
INSSV_type : INS SV_length : 119 |
splitAnnotation_mode : split |
LOC101927045Gene_name : LOC101927045; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
intron2-intron2Location : intron2-intron2 CytoBand : q12 Location2 : UTR Tx : NR_110032 Tx_version : 1 Tx_start : 24442952 Tx_end : 24502197 Exon_count : 3 Overlapped_tx_length : 1 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 27793 Nearest_SS_type : 3' Intersect_start : 24473765 Intersect_end : 24473766 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_gain_source : dbVar B_gain_coord : chr14:24444462-24552552 B_gain_AFmax : 0.01 B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
CHM13,HG00438,HG00621,HG00673,HG00733,HG00735[...]Samples_ID : CHM13,HG00438,HG00621,HG00673,HG00733,HG00735,HG00741,HG01071,HG01106,HG01109,HG01123,HG01175,HG01243,HG01258,HG01358,HG01361,HG01928,HG01952,HG01978,HG02080,HG02109,HG02145,HG02148,HG02257,HG02559,HG02572,HG02622,HG02717,HG02723,HG03098,HG03486,HG03492,HG03540,NA18906,NA20129,NA21309 |
>60146780>60146777ID : >60146780>60146777 |
CREF : C |
CTAAGGGATTGTAAATAAACCAATCAGCAATCTGTGTCTAGCTCG[...]ALT : CTAAGGGATTGTAAATAAACCAATCAGCAATCTGTGTCTAGCTCGAGGTTTGTAAATGCACCAATCAGCACTCTCTACCTAGCTAATCTGGTGGGGACTTGGAGAACTTTTATGTCTAGC |
60QUAL : 60 |
.FILTER : . |
AC=60; AF=0.674157; AN=89; AT=>60146780>[...]INFO : AC=60; AF=0.674157; AN=89; AT=>60146780>60146777,>60146780>60146779>60146778>60146777; LV=0; NS=45; e=24473766; s=119; rC=LTR/ERV |
GTFORMAT : GT |
1CHM13 : 1 |
1|1HG00438 : 1|1 |
1|1HG00621 : 1|1 |
1|1HG00673 : 1|1 |
1|1HG00733 : 1|1 |
1|1HG00735 : 1|1 |
1|1HG00741 : 1|1 |
1|1HG01071 : 1|1 |
1|1HG01106 : 1|1 |
1|1HG01109 : 1|1 |
1|1HG01123 : 1|1 |
1|1HG01175 : 1|1 |
1|0HG01243 : 1|0 |
1|1HG01258 : 1|1 |
1|1HG01358 : 1|1 |
1|1HG01361 : 1|1 |
0|0HG01891 : 0|0 |
1|1HG01928 : 1|1 |
1|1HG01952 : 1|1 |
1|1HG01978 : 1|1 |
0|0HG02055 : 0|0 |
1|1HG02080 : 1|1 |
1|1HG02109 : 1|1 |
0|1HG02145 : 0|1 |
1|1HG02148 : 1|1 |
0|1HG02257 : 0|1 |
0|0HG02486 : 0|0 |
1|0HG02559 : 1|0 |
1|1HG02572 : 1|1 |
1|1HG02622 : 1|1 |
0|0HG02630 : 0|0 |
0|1HG02717 : 0|1 |
1|1HG02723 : 1|1 |
0|0HG02818 : 0|0 |
0|0HG02886 : 0|0 |
1|1HG03098 : 1|1 |
0|0HG03453 : 0|0 |
1|0HG03486 : 1|0 |
0|1HG03492 : 0|1 |
0|0HG03516 : 0|0 |
1|0HG03540 : 1|0 |
0|0HG03579 : 0|0 |
0|1NA18906 : 0|1 |
0|1NA20129 : 0|1 |
1|0NA21309 : 1|0 |
|
NAACMG_class : NA AnnotSV_ranking_score : . AnnotSV_ranking_criteria : . |
INSSV_type : INS SV_length : 311 Gene_count : 1 |
fullAnnotation_mode : full |
KLF12Gene_name : KLF12; LOEUF_bin : 1 GnomAD_pLI : 9.8067e-01 ExAC_pLI : 9.8223e-01 HI : . TS : . DDD_HI_percent : 4.25 ExAC_cnvZ : 0.773237580984966 ExAC_delZ : 0.69275050605321 ExAC_dupZ : 0.528687297340572 ExAC_synZ : -0.686558897374254 ExAC_misZ : 1.87712817813369 Closest_left : LOC124903182 Closest_right : LINC00402 |
.Location : . CytoBand : q22.1 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_gain_phen : . po_P_gain_hpo : . po_P_gain_source : dbVar:nssv17955548; nssv17976992; dbVar:nssv15161090; dbVar:nssv15172692; dbVar:nssv17059476; dbVar:nssv15162474; dbVar:nssv15161751; dbVar:nssv18326470; dbVar:nssv15161513; dbVar:nssv17969571; dbVar:nssv15161108; nssv15776345; nssv17957159; nssv17969572; dbVar:nssv15161661; nssv15161681; dbVar:nssv15161295; dbVar:nssv15161646; dbVar:nssv15161837; dbVar:nssv15161365; dbVar:nssv15161763; dbVar:nssv15161793; dbVar:nssv15161296; nssv15161378; dbVar:nssv15161514; dbVar:nssv15161263; nssv15161581; dbVar:nssv15161082; dbVar:nssv15161297; dbVar:nssv15161759; dbVar:nssv17956080; dbVar:nssv15161298; dbVar:nssv15161752; dbVar:nssv15161430; dbVar:nssv15161415; dbVar:nssv17969599; dbVar:nssv15772623; dbVar:nssv15142163; dbVar:nssv15161659 po_P_gain_coord : 13:18445863-114344403; 13:18456041-114340285; 13:18457098-114341682; 13:18479466-114343053; 13:18484578-114338054; 13:18565049-114327173; 13:18679709-114343462; 13:18850546-114327173; 13:18862147-114216251; 13:18862147-114342258; 13:18862148-114342258; 13:18946183-114304628; 13:18997364-114327035; 13:18997364-114327094; 13:19671935-114340331; 13:19833131-114298614; 13:19833131-114327106; 13:19837396-114327173; 13:30318914-83610426; 13:31363473-90575292; 13:32531487-86757044; 13:33528098-114327173; 13:41288494-85137552; 13:41930405-107553921; 13:44164752-114327173; 13:44733047-114327173; 13:53358224-95934109; 13:55857610-114342258; 13:60850035-114342258; 13:61201434-114342258; 13:68050299-114327173; 13:71297337-114342258 po_P_gain_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00 po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15161772; dbVar:nssv17969588; dbVar:nssv15161334; dbVar:nssv15161071; dbVar:nssv17969593; dbVar:nssv15161035; dbVar:nssv15161906; dbVar:nssv15161779; dbVar:nssv16208363; dbVar:nssv16208365; dbVar:nssv15161647; dbVar:nssv15172817; dbVar:nssv17957149; dbVar:nssv15161766; dbVar:nssv17969600; dbVar:nssv15161351; dbVar:nssv15161314; dbVar:nssv16208368; dbVar:nssv15161128; dbVar:nssv15161639; dbVar:nssv15161336; dbVar:nssv15161434 po_P_loss_coord : 13:18445863-114327173; 13:35802068-80107618; 13:40942299-114340331; 13:41143821-85137552; 13:41883706-91144444; 13:44967524-92738168; 13:46968081-87381985; 13:47117588-84300935; 13:50938468-90978857; 13:52687879-114342258; 13:52977166-109198303; 13:56484301-94032361; 13:59000627-88757773; 13:60536345-84553188; 13:61112410-82727957; 13:63713366-79638415; 13:66320999-87855429; 13:70928226-85997595; 13:71439660-87369304; 13:71600611-81647226; 13:72681541-79638468; 13:73885259-92829041 po_P_loss_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_gain_allG_source : . po_B_gain_allG_coord : . po_B_gain_someG_source : . po_B_gain_someG_coord : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 13:74095391-74095688 Repeat_type_left : AluJo Gap_left : . GC_content_left : 0.375 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 13:74095391-74095688 Repeat_type_right : AluJo Gap_right : . GC_content_right : 0.380 |
CHM13Samples_ID : CHM13 |
>57644512>57644514ID : >57644512>57644514 |
AREF : A |
AGTGCCTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTG[...]ALT : AGTGCCTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAGGCTCCGCCCCCTGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCGGAGTAGCTGGGACTACAGGCGCCCGCCACCTCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTGTA |
60QUAL : 60 |
.FILTER : . |
AC=1; AF=0.011236; AN=89; AT=>57644512>[...]INFO : AC=1; AF=0.011236; AN=89; AT=>57644512>57644514,>57644512>57644513>57644514; LV=0; NS=45; e=74095373; s=311; rC=SINE/Alu |
GTFORMAT : GT |
1CHM13 : 1 |
0|0HG00438 : 0|0 |
0|0HG00621 : 0|0 |
0|0HG00673 : 0|0 |
0|0HG00733 : 0|0 |
0|0HG00735 : 0|0 |
0|0HG00741 : 0|0 |
0|0HG01071 : 0|0 |
0|0HG01106 : 0|0 |
0|0HG01109 : 0|0 |
0|0HG01123 : 0|0 |
0|0HG01175 : 0|0 |
0|0HG01243 : 0|0 |
0|0HG01258 : 0|0 |
0|0HG01358 : 0|0 |
0|0HG01361 : 0|0 |
0|0HG01891 : 0|0 |
0|0HG01928 : 0|0 |
0|0HG01952 : 0|0 |
0|0HG01978 : 0|0 |
0|0HG02055 : 0|0 |
0|0HG02080 : 0|0 |
0|0HG02109 : 0|0 |
0|0HG02145 : 0|0 |
0|0HG02148 : 0|0 |
0|0HG02257 : 0|0 |
0|0HG02486 : 0|0 |
0|0HG02559 : 0|0 |
0|0HG02572 : 0|0 |
0|0HG02622 : 0|0 |
0|0HG02630 : 0|0 |
0|0HG02717 : 0|0 |
0|0HG02723 : 0|0 |
0|0HG02818 : 0|0 |
0|0HG02886 : 0|0 |
0|0HG03098 : 0|0 |
0|0HG03453 : 0|0 |
0|0HG03486 : 0|0 |
0|0HG03492 : 0|0 |
0|0HG03516 : 0|0 |
0|0HG03540 : 0|0 |
0|0HG03579 : 0|0 |
0|0NA18906 : 0|0 |
0|0NA20129 : 0|0 |
0|0NA21309 : 0|0 |
|
full=NAACMG_class : full=NA |
INSSV_type : INS SV_length : 311 |
splitAnnotation_mode : split |
KLF12Gene_name : KLF12; LOEUF_bin : 1 GnomAD_pLI : 9.8067e-01 ExAC_pLI : 9.8223e-01 HI : . TS : . DDD_HI_percent : 4.25 ACMG : . ExAC_cnvZ : 0.773237580984966 ExAC_delZ : 0.69275050605321 ExAC_dupZ : 0.528687297340572 ExAC_synZ : -0.686558897374254 ExAC_misZ : 1.87712817813369 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 11278 |
intron1-intron1Location : intron1-intron1 CytoBand : q22.1 Location2 : 5'UTR Tx : NM_001400146 Tx_version : 1 Tx_start : 73686088 Tx_end : 74133929 Exon_count : 9 Overlapped_tx_length : 1 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 38365 Nearest_SS_type : 5' Intersect_start : 74095372 Intersect_end : 74095373 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
CHM13Samples_ID : CHM13 |
>57644512>57644514ID : >57644512>57644514 |
AREF : A |
AGTGCCTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTG[...]ALT : AGTGCCTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAGGCTCCGCCCCCTGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCGGAGTAGCTGGGACTACAGGCGCCCGCCACCTCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTGTA |
60QUAL : 60 |
.FILTER : . |
AC=1; AF=0.011236; AN=89; AT=>57644512>[...]INFO : AC=1; AF=0.011236; AN=89; AT=>57644512>57644514,>57644512>57644513>57644514; LV=0; NS=45; e=74095373; s=311; rC=SINE/Alu |
GTFORMAT : GT |
1CHM13 : 1 |
0|0HG00438 : 0|0 |
0|0HG00621 : 0|0 |
0|0HG00673 : 0|0 |
0|0HG00733 : 0|0 |
0|0HG00735 : 0|0 |
0|0HG00741 : 0|0 |
0|0HG01071 : 0|0 |
0|0HG01106 : 0|0 |
0|0HG01109 : 0|0 |
0|0HG01123 : 0|0 |
0|0HG01175 : 0|0 |
0|0HG01243 : 0|0 |
0|0HG01258 : 0|0 |
0|0HG01358 : 0|0 |
0|0HG01361 : 0|0 |
0|0HG01891 : 0|0 |
0|0HG01928 : 0|0 |
0|0HG01952 : 0|0 |
0|0HG01978 : 0|0 |
0|0HG02055 : 0|0 |
0|0HG02080 : 0|0 |
0|0HG02109 : 0|0 |
0|0HG02145 : 0|0 |
0|0HG02148 : 0|0 |
0|0HG02257 : 0|0 |
0|0HG02486 : 0|0 |
0|0HG02559 : 0|0 |
0|0HG02572 : 0|0 |
0|0HG02622 : 0|0 |
0|0HG02630 : 0|0 |
0|0HG02717 : 0|0 |
0|0HG02723 : 0|0 |
0|0HG02818 : 0|0 |
0|0HG02886 : 0|0 |
0|0HG03098 : 0|0 |
0|0HG03453 : 0|0 |
0|0HG03486 : 0|0 |
0|0HG03492 : 0|0 |
0|0HG03516 : 0|0 |
0|0HG03540 : 0|0 |
0|0HG03579 : 0|0 |
0|0NA18906 : 0|0 |
0|0NA20129 : 0|0 |
0|0NA21309 : 0|0 |
|
NAACMG_class : NA AnnotSV_ranking_score : . AnnotSV_ranking_criteria : . |
INSSV_type : INS SV_length : 161 Gene_count : 1 |
fullAnnotation_mode : full |
TMBIM4Gene_name : TMBIM4; LOEUF_bin : 8 GnomAD_pLI : 3.8876e-06 ExAC_pLI : 2.0800e-03 HI : . TS : . DDD_HI_percent : 43.64 ExAC_cnvZ : -1.23087798328857 ExAC_delZ : -1.70590570872777 ExAC_dupZ : -0.923006534527363 ExAC_synZ : 0.846526367035289 ExAC_misZ : 0.132998332375928 Closest_left : LLPH-DT Closest_right : IRAK3 |
.Location : . CytoBand : q14.3 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_gain_phen : . po_P_gain_hpo : . po_P_gain_source : dbVar:nssv15161620; dbVar:nssv15161414; nssv15161422; dbVar:nssv15171852; dbVar:nssv15161798; dbVar:nssv15171855 po_P_gain_coord : 12:45741-133265309; 12:64622-133201316; 12:82454-133201059; 12:121272-133196807; 12:512055-133202532 po_P_gain_percent : 0.00; 0.00; 0.00; 0.00; 0.00 po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15136921; dbVar:nssv18786358; dbVar:nssv17649865; dbVar:nssv15146017; dbVar:nssv17956173; dbVar:nssv15774873 po_P_loss_coord : 12:60907152-66568077; 12:64215679-69958323; 12:64857926-74869599; 12:65445177-71026337; 12:65651866-68478563; 12:65806998-66181477 po_P_loss_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . B_loss_source : dbVar B_loss_coord : chr12:66130674-66161690 B_loss_AFmax : 0.01 po_B_gain_allG_source : . po_B_gain_allG_coord : . po_B_gain_someG_source : . po_B_gain_someG_coord : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : chr12:66130674-66161690 dbVar |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 12:66160760-66161117 Repeat_type_left : SVA_F Gap_left : . GC_content_left : 0.650 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 12:66160760-66161117 Repeat_type_right : SVA_F Gap_right : . GC_content_right : 0.645 |
CHM13,HG00438,HG00621,HG00673,HG00733,HG02080[...]Samples_ID : CHM13,HG00438,HG00621,HG00673,HG00733,HG02080,HG03453 |
>53787129>53787131ID : >53787129>53787131 |
GREF : G |
GGCCGGGCAGAGGAACTCCTCACTTCCCAGACAGGGCAGCGGCTG[...]ALT : GGCCGGGCAGAGGAACTCCTCACTTCCCAGACAGGGCAGCGGCTGGGCAGAGGCCCTCATCACTTCCCAGACGATGCGCGGGGCCGGGCAGAGGCGCTGCTCACTTCCCAGACGGGGCGGCGGCCAGGCAGAGGCGCTCCTCACATCCCAGTCAGTTGGGCA |
60QUAL : 60 |
.FILTER : . |
AC=9; AF=0.101124; AN=89; AT=>53787129>[...]INFO : AC=9; AF=0.101124; AN=89; AT=>53787129>53787131,>53787129<53787130>53787131; LV=0; NS=45; e=66161044; s=161; rC=Retroposon/SVA |
GTFORMAT : GT |
0CHM13 : 0 |
1|1HG00438 : 1|1 |
1|1HG00621 : 1|1 |
0|1HG00673 : 0|1 |
0|1HG00733 : 0|1 |
0|0HG00735 : 0|0 |
0|0HG00741 : 0|0 |
0|0HG01071 : 0|0 |
0|0HG01106 : 0|0 |
0|0HG01109 : 0|0 |
0|0HG01123 : 0|0 |
0|0HG01175 : 0|0 |
0|0HG01243 : 0|0 |
0|0HG01258 : 0|0 |
0|0HG01358 : 0|0 |
0|0HG01361 : 0|0 |
0|0HG01891 : 0|0 |
0|0HG01928 : 0|0 |
0|0HG01952 : 0|0 |
0|0HG01978 : 0|0 |
0|0HG02055 : 0|0 |
1|1HG02080 : 1|1 |
0|0HG02109 : 0|0 |
0|0HG02145 : 0|0 |
0|0HG02148 : 0|0 |
0|0HG02257 : 0|0 |
0|0HG02486 : 0|0 |
0|0HG02559 : 0|0 |
0|0HG02572 : 0|0 |
0|0HG02622 : 0|0 |
0|0HG02630 : 0|0 |
0|0HG02717 : 0|0 |
0|0HG02723 : 0|0 |
0|0HG02818 : 0|0 |
0|0HG02886 : 0|0 |
0|0HG03098 : 0|0 |
1|0HG03453 : 1|0 |
0|0HG03486 : 0|0 |
0|0HG03492 : 0|0 |
0|0HG03516 : 0|0 |
0|0HG03540 : 0|0 |
0|0HG03579 : 0|0 |
0|0NA18906 : 0|0 |
0|0NA20129 : 0|0 |
0|0NA21309 : 0|0 |
|
full=NAACMG_class : full=NA |
INSSV_type : INS SV_length : 161 |
splitAnnotation_mode : split |
TMBIM4Gene_name : TMBIM4; LOEUF_bin : 8 GnomAD_pLI : 3.8876e-06 ExAC_pLI : 2.0800e-03 HI : . TS : . DDD_HI_percent : 43.64 ACMG : . ExAC_cnvZ : -1.23087798328857 ExAC_delZ : -1.70590570872777 ExAC_dupZ : -0.923006534527363 ExAC_synZ : 0.846526367035289 ExAC_misZ : 0.132998332375928 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 51643 |
intron1-intron1Location : intron1-intron1 CytoBand : q14.3 Location2 : CDS Tx : NM_001282606 Tx_version : 2 Tx_start : 66135845 Tx_end : 66169996 Exon_count : 8 Overlapped_tx_length : 1 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 738 Nearest_SS_type : 3' Intersect_start : 66161043 Intersect_end : 66161044 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . B_loss_source : dbVar B_loss_coord : chr12:66130674-66161690 B_loss_AFmax : 0.01 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
CHM13,HG00438,HG00621,HG00673,HG00733,HG02080[...]Samples_ID : CHM13,HG00438,HG00621,HG00673,HG00733,HG02080,HG03453 |
>53787129>53787131ID : >53787129>53787131 |
GREF : G |
GGCCGGGCAGAGGAACTCCTCACTTCCCAGACAGGGCAGCGGCTG[...]ALT : GGCCGGGCAGAGGAACTCCTCACTTCCCAGACAGGGCAGCGGCTGGGCAGAGGCCCTCATCACTTCCCAGACGATGCGCGGGGCCGGGCAGAGGCGCTGCTCACTTCCCAGACGGGGCGGCGGCCAGGCAGAGGCGCTCCTCACATCCCAGTCAGTTGGGCA |
60QUAL : 60 |
.FILTER : . |
AC=9; AF=0.101124; AN=89; AT=>53787129>[...]INFO : AC=9; AF=0.101124; AN=89; AT=>53787129>53787131,>53787129<53787130>53787131; LV=0; NS=45; e=66161044; s=161; rC=Retroposon/SVA |
GTFORMAT : GT |
0CHM13 : 0 |
1|1HG00438 : 1|1 |
1|1HG00621 : 1|1 |
0|1HG00673 : 0|1 |
0|1HG00733 : 0|1 |
0|0HG00735 : 0|0 |
0|0HG00741 : 0|0 |
0|0HG01071 : 0|0 |
0|0HG01106 : 0|0 |
0|0HG01109 : 0|0 |
0|0HG01123 : 0|0 |
0|0HG01175 : 0|0 |
0|0HG01243 : 0|0 |
0|0HG01258 : 0|0 |
0|0HG01358 : 0|0 |
0|0HG01361 : 0|0 |
0|0HG01891 : 0|0 |
0|0HG01928 : 0|0 |
0|0HG01952 : 0|0 |
0|0HG01978 : 0|0 |
0|0HG02055 : 0|0 |
1|1HG02080 : 1|1 |
0|0HG02109 : 0|0 |
0|0HG02145 : 0|0 |
0|0HG02148 : 0|0 |
0|0HG02257 : 0|0 |
0|0HG02486 : 0|0 |
0|0HG02559 : 0|0 |
0|0HG02572 : 0|0 |
0|0HG02622 : 0|0 |
0|0HG02630 : 0|0 |
0|0HG02717 : 0|0 |
0|0HG02723 : 0|0 |
0|0HG02818 : 0|0 |
0|0HG02886 : 0|0 |
0|0HG03098 : 0|0 |
1|0HG03453 : 1|0 |
0|0HG03486 : 0|0 |
0|0HG03492 : 0|0 |
0|0HG03516 : 0|0 |
0|0HG03540 : 0|0 |
0|0HG03579 : 0|0 |
0|0NA18906 : 0|0 |
0|0NA20129 : 0|0 |
0|0NA21309 : 0|0 |
|
NAACMG_class : NA AnnotSV_ranking_score : . AnnotSV_ranking_criteria : . |
INSSV_type : INS SV_length : 277 Gene_count : 1 |
fullAnnotation_mode : full |
LINC03056Gene_name : LINC03056; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . Closest_left : AVPR1A Closest_right : LOC105369797 |
.Location : . CytoBand : q14.2 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_gain_phen : . po_P_gain_hpo : . po_P_gain_source : dbVar:nssv15161620; dbVar:nssv15161414; nssv15161422; dbVar:nssv15171852; dbVar:nssv15161798; dbVar:nssv15171855 po_P_gain_coord : 12:45741-133265309; 12:64622-133201316; 12:82454-133201059; 12:121272-133196807; 12:512055-133202532 po_P_gain_percent : 0.00; 0.00; 0.00; 0.00; 0.00 po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15136921 po_P_loss_coord : 12:60907152-66568077 po_P_loss_percent : 0.00 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_gain_allG_source : . po_B_gain_allG_coord : . po_B_gain_someG_source : . po_B_gain_someG_coord : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 12:63322254-63322433 Repeat_type_left : MER3 Gap_left : . GC_content_left : 0.335 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 12:63322254-63322433 Repeat_type_right : MER3 Gap_right : . GC_content_right : 0.335 |
CHM13,HG01358Samples_ID : CHM13,HG01358 |
>53725454>53725456ID : >53725454>53725456 |
TREF : T |
TTCGGTTCCTCCAAACACCGCATATTCTCACTCATAGGTGGGAAT[...]ALT : TTCGGTTCCTCCAAACACCGCATATTCTCACTCATAGGTGGGAATTGAACAATGAGATCACATGGACACAGGAAGGGGAATATCACACTCTGGGGACTGTGGTGGGGTCGGGGGAGGGGGGAGGGATAGCATTGGGAGATATACCTAATGCTAGATGACACATTAGTGGGTGCAGCGCACCAGCATGGCACATGTATACATATGTAACTAACCTGCACAATGTGCACATGTACCCTAAAACTTAGAGTATAATAAAAAAAAAAAAAAAAAAAAAAAAT |
60QUAL : 60 |
.FILTER : . |
AC=1; AF=0.011236; AN=89; AT=>53725454>[...]INFO : AC=1; AF=0.011236; AN=89; AT=>53725454>53725456,>53725454<53725455>53725456; LV=0; NS=45; e=63322316; s=277; rC=LINE/L1 |
GTFORMAT : GT |
0CHM13 : 0 |
0|0HG00438 : 0|0 |
0|0HG00621 : 0|0 |
0|0HG00673 : 0|0 |
0|0HG00733 : 0|0 |
0|0HG00735 : 0|0 |
0|0HG00741 : 0|0 |
0|0HG01071 : 0|0 |
0|0HG01106 : 0|0 |
0|0HG01109 : 0|0 |
0|0HG01123 : 0|0 |
0|0HG01175 : 0|0 |
0|0HG01243 : 0|0 |
0|0HG01258 : 0|0 |
0|1HG01358 : 0|1 |
0|0HG01361 : 0|0 |
0|0HG01891 : 0|0 |
0|0HG01928 : 0|0 |
0|0HG01952 : 0|0 |
0|0HG01978 : 0|0 |
0|0HG02055 : 0|0 |
0|0HG02080 : 0|0 |
0|0HG02109 : 0|0 |
0|0HG02145 : 0|0 |
0|0HG02148 : 0|0 |
0|0HG02257 : 0|0 |
0|0HG02486 : 0|0 |
0|0HG02559 : 0|0 |
0|0HG02572 : 0|0 |
0|0HG02622 : 0|0 |
0|0HG02630 : 0|0 |
0|0HG02717 : 0|0 |
0|0HG02723 : 0|0 |
0|0HG02818 : 0|0 |
0|0HG02886 : 0|0 |
0|0HG03098 : 0|0 |
0|0HG03453 : 0|0 |
0|0HG03486 : 0|0 |
0|0HG03492 : 0|0 |
0|0HG03516 : 0|0 |
0|0HG03540 : 0|0 |
0|0HG03579 : 0|0 |
0|0NA18906 : 0|0 |
0|0NA20129 : 0|0 |
0|0NA21309 : 0|0 |
|
full=NAACMG_class : full=NA |
INSSV_type : INS SV_length : 277 |
splitAnnotation_mode : split |
LINC03056Gene_name : LINC03056; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 124902951 |
intron1-intron1Location : intron1-intron1 CytoBand : q14.2 Location2 : UTR Tx : XR_007063344 Tx_version : 1 Tx_start : 63283235 Tx_end : 63360071 Exon_count : 3 Overlapped_tx_length : 1 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 29379 Nearest_SS_type : 3' Intersect_start : 63322315 Intersect_end : 63322316 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
CHM13,HG01358Samples_ID : CHM13,HG01358 |
>53725454>53725456ID : >53725454>53725456 |
TREF : T |
TTCGGTTCCTCCAAACACCGCATATTCTCACTCATAGGTGGGAAT[...]ALT : TTCGGTTCCTCCAAACACCGCATATTCTCACTCATAGGTGGGAATTGAACAATGAGATCACATGGACACAGGAAGGGGAATATCACACTCTGGGGACTGTGGTGGGGTCGGGGGAGGGGGGAGGGATAGCATTGGGAGATATACCTAATGCTAGATGACACATTAGTGGGTGCAGCGCACCAGCATGGCACATGTATACATATGTAACTAACCTGCACAATGTGCACATGTACCCTAAAACTTAGAGTATAATAAAAAAAAAAAAAAAAAAAAAAAAT |
60QUAL : 60 |
.FILTER : . |
AC=1; AF=0.011236; AN=89; AT=>53725454>[...]INFO : AC=1; AF=0.011236; AN=89; AT=>53725454>53725456,>53725454<53725455>53725456; LV=0; NS=45; e=63322316; s=277; rC=LINE/L1 |
GTFORMAT : GT |
0CHM13 : 0 |
0|0HG00438 : 0|0 |
0|0HG00621 : 0|0 |
0|0HG00673 : 0|0 |
0|0HG00733 : 0|0 |
0|0HG00735 : 0|0 |
0|0HG00741 : 0|0 |
0|0HG01071 : 0|0 |
0|0HG01106 : 0|0 |
0|0HG01109 : 0|0 |
0|0HG01123 : 0|0 |
0|0HG01175 : 0|0 |
0|0HG01243 : 0|0 |
0|0HG01258 : 0|0 |
0|1HG01358 : 0|1 |
0|0HG01361 : 0|0 |
0|0HG01891 : 0|0 |
0|0HG01928 : 0|0 |
0|0HG01952 : 0|0 |
0|0HG01978 : 0|0 |
0|0HG02055 : 0|0 |
0|0HG02080 : 0|0 |
0|0HG02109 : 0|0 |
0|0HG02145 : 0|0 |
0|0HG02148 : 0|0 |
0|0HG02257 : 0|0 |
0|0HG02486 : 0|0 |
0|0HG02559 : 0|0 |
0|0HG02572 : 0|0 |
0|0HG02622 : 0|0 |
0|0HG02630 : 0|0 |
0|0HG02717 : 0|0 |
0|0HG02723 : 0|0 |
0|0HG02818 : 0|0 |
0|0HG02886 : 0|0 |
0|0HG03098 : 0|0 |
0|0HG03453 : 0|0 |
0|0HG03486 : 0|0 |
0|0HG03492 : 0|0 |
0|0HG03516 : 0|0 |
0|0HG03540 : 0|0 |
0|0HG03579 : 0|0 |
0|0NA18906 : 0|0 |
0|0NA20129 : 0|0 |
0|0NA21309 : 0|0 |
|
NAACMG_class : NA AnnotSV_ranking_score : . AnnotSV_ranking_criteria : . |
INSSV_type : INS SV_length : 314 Gene_count : 1 |
fullAnnotation_mode : full |
.Location : . CytoBand : q14.1 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_gain_phen : . po_P_gain_hpo : . po_P_gain_source : dbVar:nssv15161620; dbVar:nssv15161414; nssv15161422; dbVar:nssv15171852; dbVar:nssv15161798; dbVar:nssv15171855; dbVar:nssv16207144 po_P_gain_coord : 12:45741-133265309; 12:64622-133201316; 12:82454-133201059; 12:121272-133196807; 12:512055-133202532; 12:55158588-61732523 po_P_gain_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00 po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15133179; dbVar:nssv15133180 po_P_loss_coord : 12:57013356-63042498; 12:57041159-60273934 po_P_loss_percent : 0.00; 0.00 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_gain_allG_source : . po_B_gain_allG_coord : . po_B_gain_someG_source : . po_B_gain_someG_coord : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : . Repeat_type_left : . Gap_left : . GC_content_left : 0.270 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : . Repeat_type_right : . Gap_right : . GC_content_right : 0.270 |
CHM13,HG01358,HG01928,HG01952,HG01978,HG02148Samples_ID : CHM13,HG01358,HG01928,HG01952,HG01978,HG02148 |
>53621848>53621850ID : >53621848>53621850 |
TREF : T |
TTGTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCT[...]ALT : TTGTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCTTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTAACAT |
60QUAL : 60 |
.FILTER : . |
AC=7; AF=0.0786517; AN=89; AT=>53621848>[...]INFO : AC=7; AF=0.0786517; AN=89; AT=>53621848>53621850,>53621848<53621849>53621850; LV=0; NS=45; e=59016365; s=314; rC=SINE/Alu |
GTFORMAT : GT |
1CHM13 : 1 |
0|0HG00438 : 0|0 |
0|0HG00621 : 0|0 |
0|0HG00673 : 0|0 |
0|0HG00733 : 0|0 |
0|0HG00735 : 0|0 |
0|0HG00741 : 0|0 |
0|0HG01071 : 0|0 |
0|0HG01106 : 0|0 |
0|0HG01109 : 0|0 |
0|0HG01123 : 0|0 |
0|0HG01175 : 0|0 |
0|0HG01243 : 0|0 |
0|0HG01258 : 0|0 |
0|1HG01358 : 0|1 |
0|0HG01361 : 0|0 |
0|0HG01891 : 0|0 |
1|0HG01928 : 1|0 |
1|1HG01952 : 1|1 |
0|1HG01978 : 0|1 |
0|0HG02055 : 0|0 |
0|0HG02080 : 0|0 |
0|0HG02109 : 0|0 |
0|0HG02145 : 0|0 |
1|0HG02148 : 1|0 |
0|0HG02257 : 0|0 |
0|0HG02486 : 0|0 |
0|0HG02559 : 0|0 |
0|0HG02572 : 0|0 |
0|0HG02622 : 0|0 |
0|0HG02630 : 0|0 |
0|0HG02717 : 0|0 |
0|0HG02723 : 0|0 |
0|0HG02818 : 0|0 |
0|0HG02886 : 0|0 |
0|0HG03098 : 0|0 |
0|0HG03453 : 0|0 |
0|0HG03486 : 0|0 |
0|0HG03492 : 0|0 |
0|0HG03516 : 0|0 |
0|0HG03540 : 0|0 |
0|0HG03579 : 0|0 |
0|0NA18906 : 0|0 |
0|0NA20129 : 0|0 |
0|0NA21309 : 0|0 |
||
full=NAACMG_class : full=NA |
INSSV_type : INS SV_length : 314 |
splitAnnotation_mode : split |
intron2-intron2Location : intron2-intron2 CytoBand : q14.1 Location2 : UTR Tx : NR_183518 Tx_version : 1 Tx_start : 58920703 Tx_end : 59130875 Exon_count : 6 Overlapped_tx_length : 1 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 39640 Nearest_SS_type : 3' Intersect_start : 59016364 Intersect_end : 59016365 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
CHM13,HG01358,HG01928,HG01952,HG01978,HG02148Samples_ID : CHM13,HG01358,HG01928,HG01952,HG01978,HG02148 |
>53621848>53621850ID : >53621848>53621850 |
TREF : T |
TTGTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCT[...]ALT : TTGTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCTTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTAACAT |
60QUAL : 60 |
.FILTER : . |
AC=7; AF=0.0786517; AN=89; AT=>53621848>[...]INFO : AC=7; AF=0.0786517; AN=89; AT=>53621848>53621850,>53621848<53621849>53621850; LV=0; NS=45; e=59016365; s=314; rC=SINE/Alu |
GTFORMAT : GT |
1CHM13 : 1 |
0|0HG00438 : 0|0 |
0|0HG00621 : 0|0 |
0|0HG00673 : 0|0 |
0|0HG00733 : 0|0 |
0|0HG00735 : 0|0 |
0|0HG00741 : 0|0 |
0|0HG01071 : 0|0 |
0|0HG01106 : 0|0 |
0|0HG01109 : 0|0 |
0|0HG01123 : 0|0 |
0|0HG01175 : 0|0 |
0|0HG01243 : 0|0 |
0|0HG01258 : 0|0 |
0|1HG01358 : 0|1 |
0|0HG01361 : 0|0 |
0|0HG01891 : 0|0 |
1|0HG01928 : 1|0 |
1|1HG01952 : 1|1 |
0|1HG01978 : 0|1 |
0|0HG02055 : 0|0 |
0|0HG02080 : 0|0 |
0|0HG02109 : 0|0 |
0|0HG02145 : 0|0 |
1|0HG02148 : 1|0 |
0|0HG02257 : 0|0 |
0|0HG02486 : 0|0 |
0|0HG02559 : 0|0 |
0|0HG02572 : 0|0 |
0|0HG02622 : 0|0 |
0|0HG02630 : 0|0 |
0|0HG02717 : 0|0 |
0|0HG02723 : 0|0 |
0|0HG02818 : 0|0 |
0|0HG02886 : 0|0 |
0|0HG03098 : 0|0 |
0|0HG03453 : 0|0 |
0|0HG03486 : 0|0 |
0|0HG03492 : 0|0 |
0|0HG03516 : 0|0 |
0|0HG03540 : 0|0 |
0|0HG03579 : 0|0 |
0|0NA18906 : 0|0 |
0|0NA20129 : 0|0 |
0|0NA21309 : 0|0 |
||
NAACMG_class : NA AnnotSV_ranking_score : . AnnotSV_ranking_criteria : . |
INSSV_type : INS SV_length : 138 Gene_count : 1 |
fullAnnotation_mode : full |
LINC02762Gene_name : LINC02762; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . Closest_left : LOC100132686 Closest_right : LOC107984388 |
.Location : . CytoBand : q23.1 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_gain_phen : . po_P_gain_hpo : . po_P_gain_source : dbVar:nssv15171978; dbVar:nssv15158476; dbVar:nssv15150306; nssv15150623; dbVar:nssv17976763; dbVar:nssv15153881; dbVar:nssv15146478; dbVar:nssv17955616; dbVar:nssv15127200 po_P_gain_coord : 11:70865-135068576; 11:198511-135064169; 11:230617-135068576; 11:32777936-135068576; 11:71877760-116810202; 11:100348600-135040246; 11:104418237-135067522; 11:106596869-114009007 po_P_gain_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00 po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv16867095; dbVar:nssv15157249; dbVar:nssv15125487; dbVar:nssv16208314; dbVar:nssv15776162; dbVar:nssv16208316; dbVar:nssv18330287 po_P_loss_coord : 11:11814023-118502397; 11:80342411-113445514; 11:88423396-114620616; 11:103449338-114479065; 11:104230684-116810202; 11:105828874-114654154; 11:109458062-116544249 po_P_loss_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00 |
.P_snvindel_nb : . P_snvindel_phen : . |
CMRI:4_pbsv.INS.DUP.2168; HPRC:pbsv.INS.DUP.7[...]B_gain_source : CMRI:4_pbsv.INS.DUP.2168; HPRC:pbsv.INS.DUP.7853; IMH; dbVar; gnomAD-SV_v3_DUP_chr11_2efbe32f B_gain_coord : chr11:111993221-112429219; chr11:112331777-112331922; 11:112331777-112331931; 11:112331794-112331929; chr11:112331794-112331929 B_gain_AFmax : 0.5279 B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_gain_allG_source : . po_B_gain_allG_coord : . po_B_gain_someG_source : chr11:112331777-112331922 gnomAD-SV_v3_DUP_chr11_2efbe32f; 11:112331794-112331929 CMRI:4_pbsv.INS.DUP.2168; po_B_gain_someG_coord : chr11:111993221-112429219 dbVar; 11:112331777-112331931 IMH; chr11:112331794-112331929 HPRC:pbsv.INS.DUP.7853 po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 11:112331698-112331992; 11:112331993-112332061 Repeat_type_left : AluSz; MER92B Gap_left : . GC_content_left : 0.510 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 11:112331698-112331992; 11:112331993-112332061 Repeat_type_right : AluSz; MER92B Gap_right : . GC_content_right : 0.510 |
CHM13,HG00438,HG00733,HG00735,HG00741,HG01106[...]Samples_ID : CHM13,HG00438,HG00733,HG00735,HG00741,HG01106,HG01109,HG01175,HG01258,HG01358,HG01361,HG02080,HG02148,NA20129,NA21309 |
>50220480>50220482ID : >50220480>50220482 |
GREF : G |
GGTTCAAGTTATTCTCCTGCTTCAGCCTCCTGGATAGCTGGGATT[...]ALT : GGTTCAAGTTATTCTCCTGCTTCAGCCTCCTGGATAGCTGGGATTACAGGTATGCACCACCACACCTAGCTAATTTTTTTGTATTTTTAGTAGAGACAGTGTTTCACCATGTTGGCCCAGGCTGGTCTCGAACTCCTGG |
60QUAL : 60 |
.FILTER : . |
AC=15; AF=0.168539; AN=89; AT=>50220480>[...]INFO : AC=15; AF=0.168539; AN=89; AT=>50220480>50220482,>50220480<50220481>50220482; LV=0; NS=45; e=112331922; s=138; rC=SINE/Alu |
GTFORMAT : GT |
1CHM13 : 1 |
0|1HG00438 : 0|1 |
0|0HG00621 : 0|0 |
0|0HG00673 : 0|0 |
0|1HG00733 : 0|1 |
0|1HG00735 : 0|1 |
1|0HG00741 : 1|0 |
0|0HG01071 : 0|0 |
1|0HG01106 : 1|0 |
1|0HG01109 : 1|0 |
0|0HG01123 : 0|0 |
1|0HG01175 : 1|0 |
0|0HG01243 : 0|0 |
1|0HG01258 : 1|0 |
0|1HG01358 : 0|1 |
0|1HG01361 : 0|1 |
0|0HG01891 : 0|0 |
0|0HG01928 : 0|0 |
0|0HG01952 : 0|0 |
0|0HG01978 : 0|0 |
0|0HG02055 : 0|0 |
0|1HG02080 : 0|1 |
0|0HG02109 : 0|0 |
0|0HG02145 : 0|0 |
1|0HG02148 : 1|0 |
0|0HG02257 : 0|0 |
0|0HG02486 : 0|0 |
0|0HG02559 : 0|0 |
0|0HG02572 : 0|0 |
0|0HG02622 : 0|0 |
0|0HG02630 : 0|0 |
0|0HG02717 : 0|0 |
0|0HG02723 : 0|0 |
0|0HG02818 : 0|0 |
0|0HG02886 : 0|0 |
0|0HG03098 : 0|0 |
0|0HG03453 : 0|0 |
0|0HG03486 : 0|0 |
0|0HG03492 : 0|0 |
0|0HG03516 : 0|0 |
0|0HG03540 : 0|0 |
0|0HG03579 : 0|0 |
0|0NA18906 : 0|0 |
1|0NA20129 : 1|0 |
1|0NA21309 : 1|0 |
|
full=NAACMG_class : full=NA |
INSSV_type : INS SV_length : 138 |
splitAnnotation_mode : split |
LINC02762Gene_name : LINC02762; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 283140 |
intron2-intron2Location : intron2-intron2 CytoBand : q23.1 Location2 : UTR Tx : NR_126004 Tx_version : 1 Tx_start : 112270748 Tx_end : 112362534 Exon_count : 4 Overlapped_tx_length : 1 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 26180 Nearest_SS_type : 3' Intersect_start : 112331921 Intersect_end : 112331922 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
CMRI:4_pbsv.INS.DUP.2168; HPRC:pbsv.INS.DUP.7[...]B_gain_source : CMRI:4_pbsv.INS.DUP.2168; HPRC:pbsv.INS.DUP.7853; IMH; dbVar; gnomAD-SV_v3_DUP_chr11_2efbe32f B_gain_coord : chr11:111993221-112429219; chr11:112331777-112331922; 11:112331777-112331931; 11:112331794-112331929; chr11:112331794-112331929 B_gain_AFmax : 0.5279 B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
CHM13,HG00438,HG00733,HG00735,HG00741,HG01106[...]Samples_ID : CHM13,HG00438,HG00733,HG00735,HG00741,HG01106,HG01109,HG01175,HG01258,HG01358,HG01361,HG02080,HG02148,NA20129,NA21309 |
>50220480>50220482ID : >50220480>50220482 |
GREF : G |
GGTTCAAGTTATTCTCCTGCTTCAGCCTCCTGGATAGCTGGGATT[...]ALT : GGTTCAAGTTATTCTCCTGCTTCAGCCTCCTGGATAGCTGGGATTACAGGTATGCACCACCACACCTAGCTAATTTTTTTGTATTTTTAGTAGAGACAGTGTTTCACCATGTTGGCCCAGGCTGGTCTCGAACTCCTGG |
60QUAL : 60 |
.FILTER : . |
AC=15; AF=0.168539; AN=89; AT=>50220480>[...]INFO : AC=15; AF=0.168539; AN=89; AT=>50220480>50220482,>50220480<50220481>50220482; LV=0; NS=45; e=112331922; s=138; rC=SINE/Alu |
GTFORMAT : GT |
1CHM13 : 1 |
0|1HG00438 : 0|1 |
0|0HG00621 : 0|0 |
0|0HG00673 : 0|0 |
0|1HG00733 : 0|1 |
0|1HG00735 : 0|1 |
1|0HG00741 : 1|0 |
0|0HG01071 : 0|0 |
1|0HG01106 : 1|0 |
1|0HG01109 : 1|0 |
0|0HG01123 : 0|0 |
1|0HG01175 : 1|0 |
0|0HG01243 : 0|0 |
1|0HG01258 : 1|0 |
0|1HG01358 : 0|1 |
0|1HG01361 : 0|1 |
0|0HG01891 : 0|0 |
0|0HG01928 : 0|0 |
0|0HG01952 : 0|0 |
0|0HG01978 : 0|0 |
0|0HG02055 : 0|0 |
0|1HG02080 : 0|1 |
0|0HG02109 : 0|0 |
0|0HG02145 : 0|0 |
1|0HG02148 : 1|0 |
0|0HG02257 : 0|0 |
0|0HG02486 : 0|0 |
0|0HG02559 : 0|0 |
0|0HG02572 : 0|0 |
0|0HG02622 : 0|0 |
0|0HG02630 : 0|0 |
0|0HG02717 : 0|0 |
0|0HG02723 : 0|0 |
0|0HG02818 : 0|0 |
0|0HG02886 : 0|0 |
0|0HG03098 : 0|0 |
0|0HG03453 : 0|0 |
0|0HG03486 : 0|0 |
0|0HG03492 : 0|0 |
0|0HG03516 : 0|0 |
0|0HG03540 : 0|0 |
0|0HG03579 : 0|0 |
0|0NA18906 : 0|0 |
1|0NA20129 : 1|0 |
1|0NA21309 : 1|0 |
|
NAACMG_class : NA AnnotSV_ranking_score : . AnnotSV_ranking_criteria : . |
INSSV_type : INS SV_length : 906 Gene_count : 1 |
fullAnnotation_mode : full |
BCO2Gene_name : BCO2; LOEUF_bin : 7 GnomAD_pLI : 3.7829e-18 ExAC_pLI : 1.8316e-13 HI : . TS : . DDD_HI_percent : 52.89 ExAC_cnvZ : -0.925606711862513 ExAC_delZ : -2.62354415217069 ExAC_dupZ : 0.856263314015538 ExAC_synZ : -0.481056267279244 ExAC_misZ : -0.834475347941361 Closest_left : TEX12 Closest_right : PTS |
.Location : . CytoBand : q23.1 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_gain_phen : . po_P_gain_hpo : . po_P_gain_source : dbVar:nssv15171978; dbVar:nssv15158476; dbVar:nssv15150306; nssv15150623; dbVar:nssv17976763; dbVar:nssv15153881; dbVar:nssv15146478; dbVar:nssv17955616; dbVar:nssv15127200 po_P_gain_coord : 11:70865-135068576; 11:198511-135064169; 11:230617-135068576; 11:32777936-135068576; 11:71877760-116810202; 11:100348600-135040246; 11:104418237-135067522; 11:106596869-114009007 po_P_gain_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00 po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv16867095; dbVar:nssv15157249; dbVar:nssv15125487; dbVar:nssv16208314; dbVar:nssv15776162; dbVar:nssv16208316; dbVar:nssv18330287 po_P_loss_coord : 11:11814023-118502397; 11:80342411-113445514; 11:88423396-114620616; 11:103449338-114479065; 11:104230684-116810202; 11:105828874-114654154; 11:109458062-116544249 po_P_loss_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00 |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_gain_source : dbVar B_gain_coord : chr11:111993221-112429219 B_gain_AFmax : 0.01 B_loss_source : dbVar B_loss_coord : chr11:112174947-112213940 B_loss_AFmax : 0.01 po_B_gain_allG_source : . po_B_gain_allG_coord : . po_B_gain_someG_source : . po_B_gain_someG_coord : chr11:111993221-112429219 dbVar po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : chr11:112174947-112213940 dbVar |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 11:112208262-112208560 Repeat_type_left : L1MEg Gap_left : . GC_content_left : 0.310 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 11:112208262-112208560 Repeat_type_right : L1MEg Gap_right : . GC_content_right : 0.310 |
CHM13,HG01109Samples_ID : CHM13,HG01109 |
>50217561>50217565ID : >50217561>50217565 |
TTTREF : TTT |
TTTTTTTTTTTTTTTTAGGGGTGAAAATGAGAAAGGATTTATTTT[...]ALT : TTTTTTTTTTTTTTTTAGGGGTGAAAATGAGAAAGGATTTATTTTGACGTTGTTTTCTTTTTTTTTTTTTTTAATTTTTTTTTTATTGATAATTCTTGGGTGTTTCTCACAGAGGGGGATTTGGCAGGGTCATGGGACAATAGTGGAGGGAAGGTCAGCAGATAAACAAGTGAACAAAGGTCTCTGGTTTTCCTAGGCAGAGGACCCTGCGGCCTTCCGCAGTGTTTGTGTCCCTGATTACTTGAGATTAGGGATTGGTGATGACTCTTAACGAGCATGCTGCCTTCAAGCATCTGTTTAACAAAGCACATCTTGCACCGCCCTTAATCCATTTAACCCTGAGTGGACACAGCACATGTTTCAGAGAGCACAGGGTTGGGGGTAAGGTCACAGATCAACAGGATCCCAAGGCAGAGGAATTTTTCTTAGTGCAGAACAAAATGAAAAGTCTCCCATGTCTACTTCTTTCTACACAGACACGGCAACCATCCGATTTCTCAATCTTTTCCCCACCTTTCCCGCCTTTCTATTCCACAAAGCCGCCATTGTCATCCTGGCCCGTTCTCAATGAGCTGTTGGGCACACCTCCCAGAAGGGGTGGTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGGCTGACCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCAACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCCCCCCACCTCCCTCCCGGACGGGGCTT |
60QUAL : 60 |
.FILTER : . |
AC=1; AF=0.011236; AN=89; AT=>50217561>[...]INFO : AC=1; AF=0.011236; AN=89; AT=>50217561>50217564>50217565,>50217561>50217562<50217563>50217564>50217565; LV=0; NS=45; e=112208432; s=908; rC=Retroposon/SVA |
GTFORMAT : GT |
0CHM13 : 0 |
0|0HG00438 : 0|0 |
0|0HG00621 : 0|0 |
0|0HG00673 : 0|0 |
0|0HG00733 : 0|0 |
0|0HG00735 : 0|0 |
0|0HG00741 : 0|0 |
0|0HG01071 : 0|0 |
0|0HG01106 : 0|0 |
1|0HG01109 : 1|0 |
0|0HG01123 : 0|0 |
0|0HG01175 : 0|0 |
0|0HG01243 : 0|0 |
0|0HG01258 : 0|0 |
0|0HG01358 : 0|0 |
0|0HG01361 : 0|0 |
0|0HG01891 : 0|0 |
0|0HG01928 : 0|0 |
0|0HG01952 : 0|0 |
0|0HG01978 : 0|0 |
0|0HG02055 : 0|0 |
0|0HG02080 : 0|0 |
0|0HG02109 : 0|0 |
0|0HG02145 : 0|0 |
0|0HG02148 : 0|0 |
0|0HG02257 : 0|0 |
0|0HG02486 : 0|0 |
0|0HG02559 : 0|0 |
0|0HG02572 : 0|0 |
0|0HG02622 : 0|0 |
0|0HG02630 : 0|0 |
0|0HG02717 : 0|0 |
0|0HG02723 : 0|0 |
0|0HG02818 : 0|0 |
0|0HG02886 : 0|0 |
0|0HG03098 : 0|0 |
0|0HG03453 : 0|0 |
0|0HG03486 : 0|0 |
0|0HG03492 : 0|0 |
0|0HG03516 : 0|0 |
0|0HG03540 : 0|0 |
0|0HG03579 : 0|0 |
0|0NA18906 : 0|0 |
0|0NA20129 : 0|0 |
0|0NA21309 : 0|0 |
|
full=NAACMG_class : full=NA |
INSSV_type : INS SV_length : 906 |
splitAnnotation_mode : split |
BCO2Gene_name : BCO2; LOEUF_bin : 7 GnomAD_pLI : 3.7829e-18 ExAC_pLI : 1.8316e-13 HI : . TS : . DDD_HI_percent : 52.89 ACMG : . ExAC_cnvZ : -0.925606711862513 ExAC_delZ : -2.62354415217069 ExAC_dupZ : 0.856263314015538 ExAC_synZ : -0.481056267279244 ExAC_misZ : -0.834475347941361 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 83875 |
intron6-intron6Location : intron6-intron6 CytoBand : q23.1 Location2 : CDS Tx : NM_001256398 Tx_version : 3 Tx_start : 112175511 Tx_end : 112218946 Exon_count : 10 Overlapped_tx_length : 1 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 5293 Nearest_SS_type : 3' Intersect_start : 112208429 Intersect_end : 112208430 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_gain_source : dbVar B_gain_coord : chr11:111993221-112429219 B_gain_AFmax : 0.01 B_loss_source : dbVar B_loss_coord : chr11:112174947-112213940 B_loss_AFmax : 0.01 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
CHM13,HG01109Samples_ID : CHM13,HG01109 |
>50217561>50217565ID : >50217561>50217565 |
TTTREF : TTT |
TTTTTTTTTTTTTTTTAGGGGTGAAAATGAGAAAGGATTTATTTT[...]ALT : TTTTTTTTTTTTTTTTAGGGGTGAAAATGAGAAAGGATTTATTTTGACGTTGTTTTCTTTTTTTTTTTTTTTAATTTTTTTTTTATTGATAATTCTTGGGTGTTTCTCACAGAGGGGGATTTGGCAGGGTCATGGGACAATAGTGGAGGGAAGGTCAGCAGATAAACAAGTGAACAAAGGTCTCTGGTTTTCCTAGGCAGAGGACCCTGCGGCCTTCCGCAGTGTTTGTGTCCCTGATTACTTGAGATTAGGGATTGGTGATGACTCTTAACGAGCATGCTGCCTTCAAGCATCTGTTTAACAAAGCACATCTTGCACCGCCCTTAATCCATTTAACCCTGAGTGGACACAGCACATGTTTCAGAGAGCACAGGGTTGGGGGTAAGGTCACAGATCAACAGGATCCCAAGGCAGAGGAATTTTTCTTAGTGCAGAACAAAATGAAAAGTCTCCCATGTCTACTTCTTTCTACACAGACACGGCAACCATCCGATTTCTCAATCTTTTCCCCACCTTTCCCGCCTTTCTATTCCACAAAGCCGCCATTGTCATCCTGGCCCGTTCTCAATGAGCTGTTGGGCACACCTCCCAGAAGGGGTGGTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGGCTGACCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCAACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCCCCCCACCTCCCTCCCGGACGGGGCTT |
60QUAL : 60 |
.FILTER : . |
AC=1; AF=0.011236; AN=89; AT=>50217561>[...]INFO : AC=1; AF=0.011236; AN=89; AT=>50217561>50217564>50217565,>50217561>50217562<50217563>50217564>50217565; LV=0; NS=45; e=112208432; s=908; rC=Retroposon/SVA |
GTFORMAT : GT |
0CHM13 : 0 |
0|0HG00438 : 0|0 |
0|0HG00621 : 0|0 |
0|0HG00673 : 0|0 |
0|0HG00733 : 0|0 |
0|0HG00735 : 0|0 |
0|0HG00741 : 0|0 |
0|0HG01071 : 0|0 |
0|0HG01106 : 0|0 |
1|0HG01109 : 1|0 |
0|0HG01123 : 0|0 |
0|0HG01175 : 0|0 |
0|0HG01243 : 0|0 |
0|0HG01258 : 0|0 |
0|0HG01358 : 0|0 |
0|0HG01361 : 0|0 |
0|0HG01891 : 0|0 |
0|0HG01928 : 0|0 |
0|0HG01952 : 0|0 |
0|0HG01978 : 0|0 |
0|0HG02055 : 0|0 |
0|0HG02080 : 0|0 |
0|0HG02109 : 0|0 |
0|0HG02145 : 0|0 |
0|0HG02148 : 0|0 |
0|0HG02257 : 0|0 |
0|0HG02486 : 0|0 |
0|0HG02559 : 0|0 |
0|0HG02572 : 0|0 |
0|0HG02622 : 0|0 |
0|0HG02630 : 0|0 |
0|0HG02717 : 0|0 |
0|0HG02723 : 0|0 |
0|0HG02818 : 0|0 |
0|0HG02886 : 0|0 |
0|0HG03098 : 0|0 |
0|0HG03453 : 0|0 |
0|0HG03486 : 0|0 |
0|0HG03492 : 0|0 |
0|0HG03516 : 0|0 |
0|0HG03540 : 0|0 |
0|0HG03579 : 0|0 |
0|0NA18906 : 0|0 |
0|0NA20129 : 0|0 |
0|0NA21309 : 0|0 |
|
NAACMG_class : NA AnnotSV_ranking_score : . AnnotSV_ranking_criteria : . |
INSSV_type : INS SV_length : 266 Gene_count : 1 |
fullAnnotation_mode : full |
DIXDC1Gene_name : DIXDC1; LOEUF_bin : 4 GnomAD_pLI : 7.3213e-11 ExAC_pLI : 4.2687e-06 HI : . TS : . DDD_HI_percent : 25.81 ExAC_cnvZ : 0.735797221671781 ExAC_delZ : -0.303944958636362 ExAC_dupZ : 1.40626150213621 ExAC_synZ : 0.83904895490743 ExAC_misZ : 0.35499771702407 Closest_left : C11orf52 Closest_right : DLAT |
.Location : . CytoBand : q23.1 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
DLAT (morbid/RE=EA_enhancer); PTS (morbid/RE=[...]RE_gene : DLAT (morbid/RE=EA_enhancer); PTS (morbid/RE=EA_enhancer); ALG9 (morbid/RE=EA_enhancer); CRYAB (morbid/RE=EA_enhancer); SDHD (HI=3/morbid/RE=EA_enhancer); |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_gain_phen : . po_P_gain_hpo : . po_P_gain_source : dbVar:nssv15171978; dbVar:nssv15158476; dbVar:nssv15150306; nssv15150623; dbVar:nssv17976763; dbVar:nssv15153881; dbVar:nssv15146478; dbVar:nssv17955616; dbVar:nssv15127200 po_P_gain_coord : 11:70865-135068576; 11:198511-135064169; 11:230617-135068576; 11:32777936-135068576; 11:71877760-116810202; 11:100348600-135040246; 11:104418237-135067522; 11:106596869-114009007 po_P_gain_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00 po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv16867095; dbVar:nssv15157249; dbVar:nssv15125487; dbVar:nssv17173306; dbVar:nssv16208314; dbVar:nssv15776162; dbVar:nssv16208316; dbVar:nssv18330287; dbVar:nssv18789545; dbVar:nssv18789543; dbVar:nssv16213755; dbVar:nssv18787705 po_P_loss_coord : 11:11814023-118502397; 11:80342411-113445514; 11:88423396-114620616; 11:94420120-112094976; 11:103449338-114479065; 11:104230684-116810202; 11:105828874-114654154; 11:109458062-116544249; 11:111300985-112087983; 11:111300985-112089021; 11:111300985-112094970; 11:111786398-112051369 po_P_loss_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_gain_allG_source : . po_B_gain_allG_coord : . po_B_gain_someG_source : . po_B_gain_someG_coord : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : . Repeat_type_left : . Gap_left : . GC_content_left : 0.390 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : . Repeat_type_right : . Gap_right : . GC_content_right : 0.385 |
CHM13,HG00733Samples_ID : CHM13,HG00733 |
>50212829>50212831ID : >50212829>50212831 |
CREF : C |
CCTTTCTCCGGATCACGAGGTCAGGATATCGAGACCATCCCGGCT[...]ALT : CCTTTCTCCGGATCACGAGGTCAGGATATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAGATAGGCC |
60QUAL : 60 |
.FILTER : . |
AC=1; AF=0.011236; AN=89; AT=>50212829>[...]INFO : AC=1; AF=0.011236; AN=89; AT=>50212829>50212831,>50212829>50212830>50212831; LV=0; NS=45; e=111981080; s=266; rC=SINE/Alu |
GTFORMAT : GT |
0CHM13 : 0 |
0|0HG00438 : 0|0 |
0|0HG00621 : 0|0 |
0|0HG00673 : 0|0 |
0|1HG00733 : 0|1 |
0|0HG00735 : 0|0 |
0|0HG00741 : 0|0 |
0|0HG01071 : 0|0 |
0|0HG01106 : 0|0 |
0|0HG01109 : 0|0 |
0|0HG01123 : 0|0 |
0|0HG01175 : 0|0 |
0|0HG01243 : 0|0 |
0|0HG01258 : 0|0 |
0|0HG01358 : 0|0 |
0|0HG01361 : 0|0 |
0|0HG01891 : 0|0 |
0|0HG01928 : 0|0 |
0|0HG01952 : 0|0 |
0|0HG01978 : 0|0 |
0|0HG02055 : 0|0 |
0|0HG02080 : 0|0 |
0|0HG02109 : 0|0 |
0|0HG02145 : 0|0 |
0|0HG02148 : 0|0 |
0|0HG02257 : 0|0 |
0|0HG02486 : 0|0 |
0|0HG02559 : 0|0 |
0|0HG02572 : 0|0 |
0|0HG02622 : 0|0 |
0|0HG02630 : 0|0 |
0|0HG02717 : 0|0 |
0|0HG02723 : 0|0 |
0|0HG02818 : 0|0 |
0|0HG02886 : 0|0 |
0|0HG03098 : 0|0 |
0|0HG03453 : 0|0 |
0|0HG03486 : 0|0 |
0|0HG03492 : 0|0 |
0|0HG03516 : 0|0 |
0|0HG03540 : 0|0 |
0|0HG03579 : 0|0 |
0|0NA18906 : 0|0 |
0|0NA20129 : 0|0 |
0|0NA21309 : 0|0 |
|
full=NAACMG_class : full=NA |
INSSV_type : INS SV_length : 266 |
splitAnnotation_mode : split |
DIXDC1Gene_name : DIXDC1; LOEUF_bin : 4 GnomAD_pLI : 7.3213e-11 ExAC_pLI : 4.2687e-06 HI : . TS : . DDD_HI_percent : 25.81 ACMG : . ExAC_cnvZ : 0.735797221671781 ExAC_delZ : -0.303944958636362 ExAC_dupZ : 1.40626150213621 ExAC_synZ : 0.83904895490743 ExAC_misZ : 0.35499771702407 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 85458 |
intron7-intron7Location : intron7-intron7 CytoBand : q23.1 Location2 : CDS Tx : XM_017018466 Tx_version : 3 Tx_start : 111927314 Tx_end : 112022653 Exon_count : 21 Overlapped_tx_length : 1 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 230 Nearest_SS_type : 5' Intersect_start : 111981079 Intersect_end : 111981080 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
CHM13,HG00733Samples_ID : CHM13,HG00733 |
>50212829>50212831ID : >50212829>50212831 |
CREF : C |
CCTTTCTCCGGATCACGAGGTCAGGATATCGAGACCATCCCGGCT[...]ALT : CCTTTCTCCGGATCACGAGGTCAGGATATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAGATAGGCC |
60QUAL : 60 |
.FILTER : . |
AC=1; AF=0.011236; AN=89; AT=>50212829>[...]INFO : AC=1; AF=0.011236; AN=89; AT=>50212829>50212831,>50212829>50212830>50212831; LV=0; NS=45; e=111981080; s=266; rC=SINE/Alu |
GTFORMAT : GT |
0CHM13 : 0 |
0|0HG00438 : 0|0 |
0|0HG00621 : 0|0 |
0|0HG00673 : 0|0 |
0|1HG00733 : 0|1 |
0|0HG00735 : 0|0 |
0|0HG00741 : 0|0 |
0|0HG01071 : 0|0 |
0|0HG01106 : 0|0 |
0|0HG01109 : 0|0 |
0|0HG01123 : 0|0 |
0|0HG01175 : 0|0 |
0|0HG01243 : 0|0 |
0|0HG01258 : 0|0 |
0|0HG01358 : 0|0 |
0|0HG01361 : 0|0 |
0|0HG01891 : 0|0 |
0|0HG01928 : 0|0 |
0|0HG01952 : 0|0 |
0|0HG01978 : 0|0 |
0|0HG02055 : 0|0 |
0|0HG02080 : 0|0 |
0|0HG02109 : 0|0 |
0|0HG02145 : 0|0 |
0|0HG02148 : 0|0 |
0|0HG02257 : 0|0 |
0|0HG02486 : 0|0 |
0|0HG02559 : 0|0 |
0|0HG02572 : 0|0 |
0|0HG02622 : 0|0 |
0|0HG02630 : 0|0 |
0|0HG02717 : 0|0 |
0|0HG02723 : 0|0 |
0|0HG02818 : 0|0 |
0|0HG02886 : 0|0 |
0|0HG03098 : 0|0 |
0|0HG03453 : 0|0 |
0|0HG03486 : 0|0 |
0|0HG03492 : 0|0 |
0|0HG03516 : 0|0 |
0|0HG03540 : 0|0 |
0|0HG03579 : 0|0 |
0|0NA18906 : 0|0 |
0|0NA20129 : 0|0 |
0|0NA21309 : 0|0 |
|
NAACMG_class : NA AnnotSV_ranking_score : . AnnotSV_ranking_criteria : . |
INSSV_type : INS SV_length : 218 Gene_count : 1 |
fullAnnotation_mode : full |
INCENPGene_name : INCENP; LOEUF_bin : 1 GnomAD_pLI : 8.8595e-01 ExAC_pLI : 9.9609e-01 HI : . TS : . DDD_HI_percent : 62.6 ExAC_cnvZ : 1.05134189077339 ExAC_delZ : 0.9006964469995 ExAC_dupZ : 0.822134462816166 ExAC_synZ : -0.409229307217501 ExAC_misZ : 1.03997746568967 Closest_left : LOC124902681 Closest_right : SCGB1D1 |
.Location : . CytoBand : q12.3 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_gain_phen : . po_P_gain_hpo : . po_P_gain_source : dbVar:nssv15171978; dbVar:nssv15158476; dbVar:nssv15150306; nssv15150623; dbVar:nssv17976763; dbVar:nssv15155374 po_P_gain_coord : 11:70865-135068576; 11:198511-135064169; 11:230617-135068576; 11:32777936-135068576; 11:59167743-62410184 po_P_gain_percent : 0.00; 0.00; 0.00; 0.00; 0.00 po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv16867095; dbVar:nssv15150928 po_P_loss_coord : 11:11814023-118502397; 11:62073526-63219858 po_P_loss_percent : 0.00; 0.00 |
.P_snvindel_nb : . P_snvindel_phen : . |
gnomAD-SV_v3_DUP_chr11_c39f8718B_gain_source : gnomAD-SV_v3_DUP_chr11_c39f8718 B_gain_coord : chr11:62143070-62143199 B_gain_AFmax : 0.2291 B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_gain_allG_source : . po_B_gain_allG_coord : . po_B_gain_someG_source : . po_B_gain_someG_coord : chr11:62143070-62143199 gnomAD-SV_v3_DUP_chr11_c39f8718 po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 11:62142547-62143638 Repeat_type_left : L1MD2 Gap_left : . GC_content_left : 0.540 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 11:62142547-62143638 Repeat_type_right : L1MD2 Gap_right : . GC_content_right : 0.545 |
CHM13,HG00621,HG00673,HG00733,HG00735,HG01071[...]Samples_ID : CHM13,HG00621,HG00673,HG00733,HG00735,HG01071,HG01106,HG01109,HG01175,HG01258,HG01361,HG01928,HG01952,HG01978,HG02055,HG02109,HG02145,HG02148,HG02559,HG02886,HG03453,HG03492 |
>52023432>52023430ID : >52023432>52023430 |
CREF : C |
CTCTGAGTTTTGACTTGGCAGCTTTCTCTGTCCAGGGTCGCCTGG[...]ALT : CTCTGAGTTTTGACTTGGCAGCTTTCTCTGTCCAGGGTCGCCTGGCAGGGGGACAGACAGAAGAGCAACACACAGGGTTTGGCCCACACTTTTGGGATCACAGCTCCTCCTCTGAGTTTTGACTTGGCAGCTTTCTCTGTCCAGGGTCGCCTGGCAGGGGGACAGACAGAAGAGCAACACACAGGGTTTGGCCCACACTTTTGGGATCACAGCTCCTCC |
60QUAL : 60 |
.FILTER : . |
AC=28; AF=0.314607; AN=89; AT=>52023432>[...]INFO : AC=28; AF=0.314607; AN=89; AT=>52023432>52023430,>52023432>52023431>52023430; LV=0; NS=45; e=62143188; s=218; rC=LINE/L1 |
GTFORMAT : GT |
0CHM13 : 0 |
0|0HG00438 : 0|0 |
1|1HG00621 : 1|1 |
1|0HG00673 : 1|0 |
1|1HG00733 : 1|1 |
0|1HG00735 : 0|1 |
0|0HG00741 : 0|0 |
1|1HG01071 : 1|1 |
1|0HG01106 : 1|0 |
0|1HG01109 : 0|1 |
0|0HG01123 : 0|0 |
0|1HG01175 : 0|1 |
0|0HG01243 : 0|0 |
0|1HG01258 : 0|1 |
0|0HG01358 : 0|0 |
0|1HG01361 : 0|1 |
0|0HG01891 : 0|0 |
1|1HG01928 : 1|1 |
1|1HG01952 : 1|1 |
1|1HG01978 : 1|1 |
0|1HG02055 : 0|1 |
0|0HG02080 : 0|0 |
1|0HG02109 : 1|0 |
1|0HG02145 : 1|0 |
1|1HG02148 : 1|1 |
0|0HG02257 : 0|0 |
0|0HG02486 : 0|0 |
0|1HG02559 : 0|1 |
0|0HG02572 : 0|0 |
0|0HG02622 : 0|0 |
0|0HG02630 : 0|0 |
0|0HG02717 : 0|0 |
0|0HG02723 : 0|0 |
0|0HG02818 : 0|0 |
1|0HG02886 : 1|0 |
0|0HG03098 : 0|0 |
0|1HG03453 : 0|1 |
0|0HG03486 : 0|0 |
0|1HG03492 : 0|1 |
0|0HG03516 : 0|0 |
0|0HG03540 : 0|0 |
0|0HG03579 : 0|0 |
0|0NA18906 : 0|0 |
0|0NA20129 : 0|0 |
0|0NA21309 : 0|0 |
|
full=NAACMG_class : full=NA |
INSSV_type : INS SV_length : 218 |
splitAnnotation_mode : split |
INCENPGene_name : INCENP; LOEUF_bin : 1 GnomAD_pLI : 8.8595e-01 ExAC_pLI : 9.9609e-01 HI : . TS : . DDD_HI_percent : 62.6 ACMG : . ExAC_cnvZ : 1.05134189077339 ExAC_delZ : 0.9006964469995 ExAC_dupZ : 0.822134462816166 ExAC_synZ : -0.409229307217501 ExAC_misZ : 1.03997746568967 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 3619 |
intron11-intron11Location : intron11-intron11 CytoBand : q12.3 Location2 : CDS Tx : NM_001040694 Tx_version : 2 Tx_start : 62124010 Tx_end : 62153169 Exon_count : 19 Overlapped_tx_length : 1 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 1676 Nearest_SS_type : 5' Intersect_start : 62143187 Intersect_end : 62143188 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
gnomAD-SV_v3_DUP_chr11_c39f8718B_gain_source : gnomAD-SV_v3_DUP_chr11_c39f8718 B_gain_coord : chr11:62143070-62143199 B_gain_AFmax : 0.2291 B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
CHM13,HG00621,HG00673,HG00733,HG00735,HG01071[...]Samples_ID : CHM13,HG00621,HG00673,HG00733,HG00735,HG01071,HG01106,HG01109,HG01175,HG01258,HG01361,HG01928,HG01952,HG01978,HG02055,HG02109,HG02145,HG02148,HG02559,HG02886,HG03453,HG03492 |
>52023432>52023430ID : >52023432>52023430 |
CREF : C |
CTCTGAGTTTTGACTTGGCAGCTTTCTCTGTCCAGGGTCGCCTGG[...]ALT : CTCTGAGTTTTGACTTGGCAGCTTTCTCTGTCCAGGGTCGCCTGGCAGGGGGACAGACAGAAGAGCAACACACAGGGTTTGGCCCACACTTTTGGGATCACAGCTCCTCCTCTGAGTTTTGACTTGGCAGCTTTCTCTGTCCAGGGTCGCCTGGCAGGGGGACAGACAGAAGAGCAACACACAGGGTTTGGCCCACACTTTTGGGATCACAGCTCCTCC |
60QUAL : 60 |
.FILTER : . |
AC=28; AF=0.314607; AN=89; AT=>52023432>[...]INFO : AC=28; AF=0.314607; AN=89; AT=>52023432>52023430,>52023432>52023431>52023430; LV=0; NS=45; e=62143188; s=218; rC=LINE/L1 |
GTFORMAT : GT |
0CHM13 : 0 |
0|0HG00438 : 0|0 |
1|1HG00621 : 1|1 |
1|0HG00673 : 1|0 |
1|1HG00733 : 1|1 |
0|1HG00735 : 0|1 |
0|0HG00741 : 0|0 |
1|1HG01071 : 1|1 |
1|0HG01106 : 1|0 |
0|1HG01109 : 0|1 |
0|0HG01123 : 0|0 |
0|1HG01175 : 0|1 |
0|0HG01243 : 0|0 |
0|1HG01258 : 0|1 |
0|0HG01358 : 0|0 |
0|1HG01361 : 0|1 |
0|0HG01891 : 0|0 |
1|1HG01928 : 1|1 |
1|1HG01952 : 1|1 |
1|1HG01978 : 1|1 |
0|1HG02055 : 0|1 |
0|0HG02080 : 0|0 |
1|0HG02109 : 1|0 |
1|0HG02145 : 1|0 |
1|1HG02148 : 1|1 |
0|0HG02257 : 0|0 |
0|0HG02486 : 0|0 |
0|1HG02559 : 0|1 |
0|0HG02572 : 0|0 |
0|0HG02622 : 0|0 |
0|0HG02630 : 0|0 |
0|0HG02717 : 0|0 |
0|0HG02723 : 0|0 |
0|0HG02818 : 0|0 |
1|0HG02886 : 1|0 |
0|0HG03098 : 0|0 |
0|1HG03453 : 0|1 |
0|0HG03486 : 0|0 |
0|1HG03492 : 0|1 |
0|0HG03516 : 0|0 |
0|0HG03540 : 0|0 |
0|0HG03579 : 0|0 |
0|0NA18906 : 0|0 |
0|0NA20129 : 0|0 |
0|0NA21309 : 0|0 |
|
NAACMG_class : NA AnnotSV_ranking_score : . AnnotSV_ranking_criteria : . |
INSSV_type : INS SV_length : 302 Gene_count : 1 |
fullAnnotation_mode : full |
LOC101928563Gene_name : LOC101928563; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . Closest_left : LINC01493 Closest_right : LOC107984362 |
.Location : . CytoBand : p12 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_gain_phen : . po_P_gain_hpo : . po_P_gain_source : dbVar:nssv15171978; dbVar:nssv15158476; dbVar:nssv15150306; nssv15150623; dbVar:nssv17976763 po_P_gain_coord : 11:70865-135068576; 11:198511-135064169; 11:230617-135068576; 11:32777936-135068576 po_P_gain_percent : 0.00; 0.00; 0.00; 0.00 po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv16867095; dbVar:nssv15150227; dbVar:nssv15147690; dbVar:nssv15161504; dbVar:nssv15136152 po_P_loss_coord : 11:11814023-118502397; 11:27567014-41749242; 11:30593581-40584589; 11:35663579-46959820; 11:36007378-40318124 po_P_loss_percent : 0.00; 0.00; 0.00; 0.00; 0.00 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . B_loss_source : dbVar B_loss_coord : chr11:38831875-38940297; chr11:38867178-38896682 B_loss_AFmax : 0.01 po_B_gain_allG_source : . po_B_gain_allG_coord : . po_B_gain_someG_source : . po_B_gain_someG_coord : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : chr11:38867178-38896682 dbVar po_B_loss_someG_coord : chr11:38831875-38940297 dbVar |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 11:38872630-38872968 Repeat_type_left : L1PB4 Gap_left : . GC_content_left : 0.325 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 11:38872630-38872968 Repeat_type_right : L1PB4 Gap_right : . GC_content_right : 0.325 |
CHM13,HG02630,HG02886Samples_ID : CHM13,HG02630,HG02886 |
>49121519>49121521ID : >49121519>49121521 |
TREF : T |
TTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTC[...]ALT : TTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGAGATAGCTT |
60QUAL : 60 |
.FILTER : . |
AC=2; AF=0.0224719; AN=89; AT=>49121519>[...]INFO : AC=2; AF=0.0224719; AN=89; AT=>49121519>49121521,>49121519<49121520>49121521; LV=0; NS=45; e=38872604; s=302; rC=SINE/Alu |
GTFORMAT : GT |
0CHM13 : 0 |
0|0HG00438 : 0|0 |
0|0HG00621 : 0|0 |
0|0HG00673 : 0|0 |
0|0HG00733 : 0|0 |
0|0HG00735 : 0|0 |
0|0HG00741 : 0|0 |
0|0HG01071 : 0|0 |
0|0HG01106 : 0|0 |
0|0HG01109 : 0|0 |
0|0HG01123 : 0|0 |
0|0HG01175 : 0|0 |
0|0HG01243 : 0|0 |
0|0HG01258 : 0|0 |
0|0HG01358 : 0|0 |
0|0HG01361 : 0|0 |
0|0HG01891 : 0|0 |
0|0HG01928 : 0|0 |
0|0HG01952 : 0|0 |
0|0HG01978 : 0|0 |
0|0HG02055 : 0|0 |
0|0HG02080 : 0|0 |
0|0HG02109 : 0|0 |
0|0HG02145 : 0|0 |
0|0HG02148 : 0|0 |
0|0HG02257 : 0|0 |
0|0HG02486 : 0|0 |
0|0HG02559 : 0|0 |
0|0HG02572 : 0|0 |
0|0HG02622 : 0|0 |
1|0HG02630 : 1|0 |
0|0HG02717 : 0|0 |
0|0HG02723 : 0|0 |
0|0HG02818 : 0|0 |
0|1HG02886 : 0|1 |
0|0HG03098 : 0|0 |
0|0HG03453 : 0|0 |
0|0HG03486 : 0|0 |
0|0HG03492 : 0|0 |
0|0HG03516 : 0|0 |
0|0HG03540 : 0|0 |
0|0HG03579 : 0|0 |
0|0NA18906 : 0|0 |
0|0NA20129 : 0|0 |
0|0NA21309 : 0|0 |
|
full=NAACMG_class : full=NA |
INSSV_type : INS SV_length : 302 |
splitAnnotation_mode : split |
LOC101928563Gene_name : LOC101928563; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
intron3-intron3Location : intron3-intron3 CytoBand : p12 Location2 : UTR Tx : XR_001748189 Tx_version : 1 Tx_start : 38852800 Tx_end : 38886763 Exon_count : 6 Overlapped_tx_length : 1 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 2386 Nearest_SS_type : 3' Intersect_start : 38872603 Intersect_end : 38872604 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . B_loss_source : dbVar B_loss_coord : chr11:38831875-38940297; chr11:38867178-38896682 B_loss_AFmax : 0.01 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
CHM13,HG02630,HG02886Samples_ID : CHM13,HG02630,HG02886 |
>49121519>49121521ID : >49121519>49121521 |
TREF : T |
TTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTC[...]ALT : TTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGAGATAGCTT |
60QUAL : 60 |
.FILTER : . |
AC=2; AF=0.0224719; AN=89; AT=>49121519>[...]INFO : AC=2; AF=0.0224719; AN=89; AT=>49121519>49121521,>49121519<49121520>49121521; LV=0; NS=45; e=38872604; s=302; rC=SINE/Alu |
GTFORMAT : GT |
0CHM13 : 0 |
0|0HG00438 : 0|0 |
0|0HG00621 : 0|0 |
0|0HG00673 : 0|0 |
0|0HG00733 : 0|0 |
0|0HG00735 : 0|0 |
0|0HG00741 : 0|0 |
0|0HG01071 : 0|0 |
0|0HG01106 : 0|0 |
0|0HG01109 : 0|0 |
0|0HG01123 : 0|0 |
0|0HG01175 : 0|0 |
0|0HG01243 : 0|0 |
0|0HG01258 : 0|0 |
0|0HG01358 : 0|0 |
0|0HG01361 : 0|0 |
0|0HG01891 : 0|0 |
0|0HG01928 : 0|0 |
0|0HG01952 : 0|0 |
0|0HG01978 : 0|0 |
0|0HG02055 : 0|0 |
0|0HG02080 : 0|0 |
0|0HG02109 : 0|0 |
0|0HG02145 : 0|0 |
0|0HG02148 : 0|0 |
0|0HG02257 : 0|0 |
0|0HG02486 : 0|0 |
0|0HG02559 : 0|0 |
0|0HG02572 : 0|0 |
0|0HG02622 : 0|0 |
1|0HG02630 : 1|0 |
0|0HG02717 : 0|0 |
0|0HG02723 : 0|0 |
0|0HG02818 : 0|0 |
0|1HG02886 : 0|1 |
0|0HG03098 : 0|0 |
0|0HG03453 : 0|0 |
0|0HG03486 : 0|0 |
0|0HG03492 : 0|0 |
0|0HG03516 : 0|0 |
0|0HG03540 : 0|0 |
0|0HG03579 : 0|0 |
0|0NA18906 : 0|0 |
0|0NA20129 : 0|0 |
0|0NA21309 : 0|0 |
|
NAACMG_class : NA AnnotSV_ranking_score : . AnnotSV_ranking_criteria : . |
INSSV_type : INS SV_length : 292 Gene_count : 1 |
fullAnnotation_mode : full |
LINC02653Gene_name : LINC02653; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . Closest_left : LOC105378426 Closest_right : LOC124902478 |
.Location : . CytoBand : q23.31 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_gain_phen : . po_P_gain_hpo : . po_P_gain_source : dbVar:nssv15171419; dbVar:nssv15161644; dbVar:nssv15171420; dbVar:nssv15161670; nssv15161864; dbVar:nssv18830975; dbVar:nssv15153829 po_P_gain_coord : 10:27297-133786996; 10:47358-133565414; 10:52148-133740558; 10:54088-133613639; 10:11096730-133613639; 10:67280609-91435236 po_P_gain_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00 po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv18830989; dbVar:nssv15125151; dbVar:nssv18329495; dbVar:nssv15152295; dbVar:nssv18330784 po_P_loss_coord : 10:12787208-133613639; 10:79925607-133787422; 10:80835717-91782659; 10:81619486-91459412; 10:88063391-94297184 po_P_loss_percent : 0.00; 0.00; 0.00; 0.00; 0.00 |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_gain_source : dbVar B_gain_coord : chr10:90322634-90846341; chr10:90353853-90533617 B_gain_AFmax : 0.01 B_loss_source : gnomAD-SV_v3_DEL_chr10_e433cf8f; gnomAD-SV_v3_DEL_chr10_f70efaa2 B_loss_coord : chr10:53764413-94620402; chr10:59459006-109812369 B_loss_AFmax : 0.3941 po_B_gain_allG_source : . po_B_gain_allG_coord : . po_B_gain_someG_source : chr10:90353853-90533617 dbVar po_B_gain_someG_coord : chr10:90322634-90846341 dbVar po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : chr10:59459006-109812369 gnomAD-SV_v3_DEL_chr10_f70efaa2 po_B_loss_someG_coord : chr10:53764413-94620402 gnomAD-SV_v3_DEL_chr10_e433cf8f |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 10:90460634-90460700 Repeat_type_left : (AATTAA)n Gap_left : . GC_content_left : 0.290 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 10:90460634-90460700 Repeat_type_right : (AATTAA)n Gap_right : . GC_content_right : 0.290 |
CHM13,HG02257Samples_ID : CHM13,HG02257 |
>45172931>45172933ID : >45172931>45172933 |
TREF : T |
TGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCC[...]ALT : TGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGACCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATAATGAGCATT |
60QUAL : 60 |
.FILTER : . |
AC=1; AF=0.011236; AN=89; AT=>45172931>[...]INFO : AC=1; AF=0.011236; AN=89; AT=>45172931>45172933,>45172931<45172932>45172933; LV=0; NS=45; e=90460747; s=292; rC=SINE/Alu |
GTFORMAT : GT |
0CHM13 : 0 |
0|0HG00438 : 0|0 |
0|0HG00621 : 0|0 |
0|0HG00673 : 0|0 |
0|0HG00733 : 0|0 |
0|0HG00735 : 0|0 |
0|0HG00741 : 0|0 |
0|0HG01071 : 0|0 |
0|0HG01106 : 0|0 |
0|0HG01109 : 0|0 |
0|0HG01123 : 0|0 |
0|0HG01175 : 0|0 |
0|0HG01243 : 0|0 |
0|0HG01258 : 0|0 |
0|0HG01358 : 0|0 |
0|0HG01361 : 0|0 |
0|0HG01891 : 0|0 |
0|0HG01928 : 0|0 |
0|0HG01952 : 0|0 |
0|0HG01978 : 0|0 |
0|0HG02055 : 0|0 |
0|0HG02080 : 0|0 |
0|0HG02109 : 0|0 |
0|0HG02145 : 0|0 |
0|0HG02148 : 0|0 |
0|1HG02257 : 0|1 |
0|0HG02486 : 0|0 |
0|0HG02559 : 0|0 |
0|0HG02572 : 0|0 |
0|0HG02622 : 0|0 |
0|0HG02630 : 0|0 |
0|0HG02717 : 0|0 |
0|0HG02723 : 0|0 |
0|0HG02818 : 0|0 |
0|0HG02886 : 0|0 |
0|0HG03098 : 0|0 |
0|0HG03453 : 0|0 |
0|0HG03486 : 0|0 |
0|0HG03492 : 0|0 |
0|0HG03516 : 0|0 |
0|0HG03540 : 0|0 |
0|0HG03579 : 0|0 |
0|0NA18906 : 0|0 |
0|0NA20129 : 0|0 |
0|0NA21309 : 0|0 |
|
full=NAACMG_class : full=NA |
INSSV_type : INS SV_length : 292 |
splitAnnotation_mode : split |
LINC02653Gene_name : LINC02653; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 101926942 |
intron2-intron2Location : intron2-intron2 CytoBand : q23.31 Location2 : UTR Tx : NR_110657 Tx_version : 1 Tx_start : 90402520 Tx_end : 90540805 Exon_count : 7 Overlapped_tx_length : 1 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 8913 Nearest_SS_type : 3' Intersect_start : 90460746 Intersect_end : 90460747 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_gain_source : dbVar B_gain_coord : chr10:90322634-90846341; chr10:90353853-90533617 B_gain_AFmax : 0.01 B_loss_source : gnomAD-SV_v3_DEL_chr10_e433cf8f; gnomAD-SV_v3_DEL_chr10_f70efaa2 B_loss_coord : chr10:53764413-94620402; chr10:59459006-109812369 B_loss_AFmax : 0.3941 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
CHM13,HG02257Samples_ID : CHM13,HG02257 |
>45172931>45172933ID : >45172931>45172933 |
TREF : T |
TGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCC[...]ALT : TGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGACCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATAATGAGCATT |
60QUAL : 60 |
.FILTER : . |
AC=1; AF=0.011236; AN=89; AT=>45172931>[...]INFO : AC=1; AF=0.011236; AN=89; AT=>45172931>45172933,>45172931<45172932>45172933; LV=0; NS=45; e=90460747; s=292; rC=SINE/Alu |
GTFORMAT : GT |
0CHM13 : 0 |
0|0HG00438 : 0|0 |
0|0HG00621 : 0|0 |
0|0HG00673 : 0|0 |
0|0HG00733 : 0|0 |
0|0HG00735 : 0|0 |
0|0HG00741 : 0|0 |
0|0HG01071 : 0|0 |
0|0HG01106 : 0|0 |
0|0HG01109 : 0|0 |
0|0HG01123 : 0|0 |
0|0HG01175 : 0|0 |
0|0HG01243 : 0|0 |
0|0HG01258 : 0|0 |
0|0HG01358 : 0|0 |
0|0HG01361 : 0|0 |
0|0HG01891 : 0|0 |
0|0HG01928 : 0|0 |
0|0HG01952 : 0|0 |
0|0HG01978 : 0|0 |
0|0HG02055 : 0|0 |
0|0HG02080 : 0|0 |
0|0HG02109 : 0|0 |
0|0HG02145 : 0|0 |
0|0HG02148 : 0|0 |
0|1HG02257 : 0|1 |
0|0HG02486 : 0|0 |
0|0HG02559 : 0|0 |
0|0HG02572 : 0|0 |
0|0HG02622 : 0|0 |
0|0HG02630 : 0|0 |
0|0HG02717 : 0|0 |
0|0HG02723 : 0|0 |
0|0HG02818 : 0|0 |
0|0HG02886 : 0|0 |
0|0HG03098 : 0|0 |
0|0HG03453 : 0|0 |
0|0HG03486 : 0|0 |
0|0HG03492 : 0|0 |
0|0HG03516 : 0|0 |
0|0HG03540 : 0|0 |
0|0HG03579 : 0|0 |
0|0NA18906 : 0|0 |
0|0NA20129 : 0|0 |
0|0NA21309 : 0|0 |
|
NAACMG_class : NA AnnotSV_ranking_score : . AnnotSV_ranking_criteria : . |
INSSV_type : INS SV_length : 336 Gene_count : 1 |
fullAnnotation_mode : full |
TET1Gene_name : TET1; LOEUF_bin : 0 GnomAD_pLI : 1.0000e+00 ExAC_pLI : 9.9956e-01 HI : . TS : . DDD_HI_percent : 67.48 ExAC_cnvZ : 1.11314227599143 ExAC_delZ : 0.678190237197223 ExAC_dupZ : 0.939902642024546 ExAC_synZ : -1.37000820337136 ExAC_misZ : -0.388892237950016 Closest_left : SLC25A16 Closest_right : CCAR1 |
.Location : . CytoBand : q21.3 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
STOX1 (morbid/RE=GH_promoter_enhancer); KIFBP[...]RE_gene : STOX1 (morbid/RE=GH_promoter_enhancer); KIFBP (morbid/RE=GH_promoter_enhancer); |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_gain_phen : . po_P_gain_hpo : . po_P_gain_source : dbVar:nssv15171419; dbVar:nssv15161644; dbVar:nssv15171420; dbVar:nssv15161670; nssv15161864; dbVar:nssv18830975; dbVar:nssv15148014; dbVar:nssv15148838; dbVar:nssv15132882; dbVar:nssv15153829 po_P_gain_coord : 10:27297-133786996; 10:47358-133565414; 10:52148-133740558; 10:54088-133613639; 10:11096730-133613639; 10:42685307-73715908; 10:50729368-87147204; 10:67196568-79422057; 10:67280609-91435236 po_P_gain_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00 po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv18830989; dbVar:nssv15146419; dbVar:nssv15134816; dbVar:nssv15151903; dbVar:nssv17969411 po_P_loss_coord : 10:12787208-133613639; 10:58436467-74415216; 10:63402580-75296099; 10:66634654-68913719; 10:66975497-77125956 po_P_loss_percent : 0.00; 0.00; 0.00; 0.00; 0.00 |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_gain_source : dbVar B_gain_coord : chr10:68412550-68666850 B_gain_AFmax : 0.01 B_loss_source : gnomAD-SV_v3_DEL_chr10_a13546d2; gnomAD-SV_v3_DEL_chr10_e433cf8f; gnomAD-SV_v3_DEL_chr10_f70efaa2 B_loss_coord : chr10:37996824-76847693; chr10:53764413-94620402; chr10:59459006-109812369 B_loss_AFmax : 0.3941 po_B_gain_allG_source : . po_B_gain_allG_coord : . po_B_gain_someG_source : . po_B_gain_someG_coord : chr10:68412550-68666850 dbVar po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : chr10:53764413-94620402 gnomAD-SV_v3_DEL_chr10_e433cf8f; po_B_loss_someG_coord : chr10:37996824-76847693 gnomAD-SV_v3_DEL_chr10_a13546d2; chr10:59459006-109812369 gnomAD-SV_v3_DEL_chr10_f70efaa2 |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : . Repeat_type_left : . Gap_left : . GC_content_left : 0.275 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : . Repeat_type_right : . Gap_right : . GC_content_right : 0.275 |
CHM13,HG02109Samples_ID : CHM13,HG02109 |
>44953021>44953023ID : >44953021>44953023 |
AREF : A |
AATACTAAGCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC[...]ALT : AATACTAAGCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATTCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAA |
60QUAL : 60 |
.FILTER : . |
AC=1; AF=0.011236; AN=89; AT=>44953021>[...]INFO : AC=1; AF=0.011236; AN=89; AT=>44953021>44953023,>44953021>44953022>44953023; LV=0; NS=45; e=68601836; s=336; rC=SINE/Alu |
GTFORMAT : GT |
0CHM13 : 0 |
0|0HG00438 : 0|0 |
0|0HG00621 : 0|0 |
0|0HG00673 : 0|0 |
0|0HG00733 : 0|0 |
0|0HG00735 : 0|0 |
0|0HG00741 : 0|0 |
0|0HG01071 : 0|0 |
0|0HG01106 : 0|0 |
0|0HG01109 : 0|0 |
0|0HG01123 : 0|0 |
0|0HG01175 : 0|0 |
0|0HG01243 : 0|0 |
0|0HG01258 : 0|0 |
0|0HG01358 : 0|0 |
0|0HG01361 : 0|0 |
0|0HG01891 : 0|0 |
0|0HG01928 : 0|0 |
0|0HG01952 : 0|0 |
0|0HG01978 : 0|0 |
0|0HG02055 : 0|0 |
0|0HG02080 : 0|0 |
1|0HG02109 : 1|0 |
0|0HG02145 : 0|0 |
0|0HG02148 : 0|0 |
0|0HG02257 : 0|0 |
0|0HG02486 : 0|0 |
0|0HG02559 : 0|0 |
0|0HG02572 : 0|0 |
0|0HG02622 : 0|0 |
0|0HG02630 : 0|0 |
0|0HG02717 : 0|0 |
0|0HG02723 : 0|0 |
0|0HG02818 : 0|0 |
0|0HG02886 : 0|0 |
0|0HG03098 : 0|0 |
0|0HG03453 : 0|0 |
0|0HG03486 : 0|0 |
0|0HG03492 : 0|0 |
0|0HG03516 : 0|0 |
0|0HG03540 : 0|0 |
0|0HG03579 : 0|0 |
0|0NA18906 : 0|0 |
0|0NA20129 : 0|0 |
0|0NA21309 : 0|0 |
|
full=NAACMG_class : full=NA |
INSSV_type : INS SV_length : 336 |
splitAnnotation_mode : split |
TET1Gene_name : TET1; LOEUF_bin : 0 GnomAD_pLI : 1.0000e+00 ExAC_pLI : 9.9956e-01 HI : . TS : . DDD_HI_percent : 67.48 ACMG : . ExAC_cnvZ : 1.11314227599143 ExAC_delZ : 0.678190237197223 ExAC_dupZ : 0.939902642024546 ExAC_synZ : -1.37000820337136 ExAC_misZ : -0.388892237950016 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 80312 |
intron3-intron3Location : intron3-intron3 CytoBand : q21.3 Location2 : UTR Tx : XR_001747210 Tx_version : 2 Tx_start : 68560336 Tx_end : 68651938 Exon_count : 6 Overlapped_tx_length : 1 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 801 Nearest_SS_type : 5' Intersect_start : 68601835 Intersect_end : 68601836 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_gain_source : dbVar B_gain_coord : chr10:68412550-68666850 B_gain_AFmax : 0.01 B_loss_source : gnomAD-SV_v3_DEL_chr10_a13546d2; gnomAD-SV_v3_DEL_chr10_e433cf8f; gnomAD-SV_v3_DEL_chr10_f70efaa2 B_loss_coord : chr10:37996824-76847693; chr10:53764413-94620402; chr10:59459006-109812369 B_loss_AFmax : 0.3941 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
CHM13,HG02109Samples_ID : CHM13,HG02109 |
>44953021>44953023ID : >44953021>44953023 |
AREF : A |
AATACTAAGCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC[...]ALT : AATACTAAGCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATTCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAA |
60QUAL : 60 |
.FILTER : . |
AC=1; AF=0.011236; AN=89; AT=>44953021>[...]INFO : AC=1; AF=0.011236; AN=89; AT=>44953021>44953023,>44953021>44953022>44953023; LV=0; NS=45; e=68601836; s=336; rC=SINE/Alu |
GTFORMAT : GT |
0CHM13 : 0 |
0|0HG00438 : 0|0 |
0|0HG00621 : 0|0 |
0|0HG00673 : 0|0 |
0|0HG00733 : 0|0 |
0|0HG00735 : 0|0 |
0|0HG00741 : 0|0 |
0|0HG01071 : 0|0 |
0|0HG01106 : 0|0 |
0|0HG01109 : 0|0 |
0|0HG01123 : 0|0 |
0|0HG01175 : 0|0 |
0|0HG01243 : 0|0 |
0|0HG01258 : 0|0 |
0|0HG01358 : 0|0 |
0|0HG01361 : 0|0 |
0|0HG01891 : 0|0 |
0|0HG01928 : 0|0 |
0|0HG01952 : 0|0 |
0|0HG01978 : 0|0 |
0|0HG02055 : 0|0 |
0|0HG02080 : 0|0 |
1|0HG02109 : 1|0 |
0|0HG02145 : 0|0 |
0|0HG02148 : 0|0 |
0|0HG02257 : 0|0 |
0|0HG02486 : 0|0 |
0|0HG02559 : 0|0 |
0|0HG02572 : 0|0 |
0|0HG02622 : 0|0 |
0|0HG02630 : 0|0 |
0|0HG02717 : 0|0 |
0|0HG02723 : 0|0 |
0|0HG02818 : 0|0 |
0|0HG02886 : 0|0 |
0|0HG03098 : 0|0 |
0|0HG03453 : 0|0 |
0|0HG03486 : 0|0 |
0|0HG03492 : 0|0 |
0|0HG03516 : 0|0 |
0|0HG03540 : 0|0 |
0|0HG03579 : 0|0 |
0|0NA18906 : 0|0 |
0|0NA20129 : 0|0 |
0|0NA21309 : 0|0 |
|
NAACMG_class : NA AnnotSV_ranking_score : . AnnotSV_ranking_criteria : . |
INSSV_type : INS SV_length : 181 Gene_count : 1 |
fullAnnotation_mode : full |
SELENOOLPGene_name : SELENOOLP; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . Closest_left : FAM238B Closest_right : PDSS1 |
.Location : . CytoBand : p12.1 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_gain_phen : . po_P_gain_hpo : . po_P_gain_source : dbVar:nssv15127811; dbVar:nssv15171419; dbVar:nssv15161644; dbVar:nssv15171420; dbVar:nssv15161671; dbVar:nssv15161670; nssv15161864; dbVar:nssv17969399; dbVar:nssv18830975; dbVar:nssv15136587; dbVar:nssv15133211 po_P_gain_coord : 10:26907-35400193; 10:27297-133786996; 10:47358-133565414; 10:52148-133740558; 10:54087-49753594; 10:54088-133613639; 10:6231972-34443593; 10:11096730-133613639; 10:19088162-32732293; 10:25484474-26963308 po_P_gain_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00 po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv18830989 po_P_loss_coord : 10:12787208-133613639 po_P_loss_percent : 0.00 |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_gain_source : dbVar B_gain_coord : chr10:26609358-26687927 B_gain_AFmax : 0.01 B_loss_source : dbVar B_loss_coord : chr10:26604070-26682071; chr10:26654862-26685339 B_loss_AFmax : 0.01 po_B_gain_allG_source : . po_B_gain_allG_coord : . po_B_gain_someG_source : . po_B_gain_someG_coord : chr10:26609358-26687927 dbVar po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : chr10:26654862-26685339 dbVar po_B_loss_someG_coord : chr10:26604070-26682071 dbVar |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : 10:26670346-26675384 Repeat_coord_left : 10:26671981-26672284 Repeat_type_left : AluSq2 Gap_left : . GC_content_left : 0.540 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : 10:26670346-26675384 Repeat_coord_right : 10:26671981-26672284 Repeat_type_right : AluSq2 Gap_right : . GC_content_right : 0.540 |
CHM13,HG00438,HG00621,HG00673,HG00733,HG00735[...]Samples_ID : CHM13,HG00438,HG00621,HG00673,HG00733,HG00735,HG00741,HG01071,HG01243,HG01258,HG01358,HG01361,HG01891,HG01928,HG01952,HG01978,HG02080,HG02145,HG02148,HG02622,HG02630,HG02818,HG03492 |
>47174912>47174914ID : >47174912>47174914 |
TREF : T |
TTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGG[...]ALT : TTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTA |
60QUAL : 60 |
.FILTER : . |
AC=28; AF=0.314607; AN=89; AT=>47174912>[...]INFO : AC=28; AF=0.314607; AN=89; AT=>47174912>47174914,>47174912>47174913>47174914; LV=0; NS=45; e=26672155; s=181; rC=SINE/Alu |
GTFORMAT : GT |
1CHM13 : 1 |
1|0HG00438 : 1|0 |
1|1HG00621 : 1|1 |
1|1HG00673 : 1|1 |
1|1HG00733 : 1|1 |
0|1HG00735 : 0|1 |
1|0HG00741 : 1|0 |
0|1HG01071 : 0|1 |
0|0HG01106 : 0|0 |
0|0HG01109 : 0|0 |
0|0HG01123 : 0|0 |
0|0HG01175 : 0|0 |
0|1HG01243 : 0|1 |
0|1HG01258 : 0|1 |
1|0HG01358 : 1|0 |
1|0HG01361 : 1|0 |
1|0HG01891 : 1|0 |
0|1HG01928 : 0|1 |
1|0HG01952 : 1|0 |
1|0HG01978 : 1|0 |
0|0HG02055 : 0|0 |
1|1HG02080 : 1|1 |
0|0HG02109 : 0|0 |
1|0HG02145 : 1|0 |
0|1HG02148 : 0|1 |
0|0HG02257 : 0|0 |
0|0HG02486 : 0|0 |
0|0HG02559 : 0|0 |
0|0HG02572 : 0|0 |
1|0HG02622 : 1|0 |
1|0HG02630 : 1|0 |
0|0HG02717 : 0|0 |
0|0HG02723 : 0|0 |
0|1HG02818 : 0|1 |
0|0HG02886 : 0|0 |
0|0HG03098 : 0|0 |
0|0HG03453 : 0|0 |
0|0HG03486 : 0|0 |
1|1HG03492 : 1|1 |
0|0HG03516 : 0|0 |
0|0HG03540 : 0|0 |
0|0HG03579 : 0|0 |
0|0NA18906 : 0|0 |
0|0NA20129 : 0|0 |
0|0NA21309 : 0|0 |
|
full=NAACMG_class : full=NA |
INSSV_type : INS SV_length : 181 |
splitAnnotation_mode : split |
SELENOOLPGene_name : SELENOOLP; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 105376462 |
intron1-intron1Location : intron1-intron1 CytoBand : p12.1 Location2 : UTR Tx : XR_930765 Tx_version : 3 Tx_start : 26662923 Tx_end : 26675775 Exon_count : 3 Overlapped_tx_length : 1 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 3538 Nearest_SS_type : 5' Intersect_start : 26672154 Intersect_end : 26672155 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_gain_source : dbVar B_gain_coord : chr10:26609358-26687927 B_gain_AFmax : 0.01 B_loss_source : dbVar B_loss_coord : chr10:26604070-26682071; chr10:26654862-26685339 B_loss_AFmax : 0.01 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
CHM13,HG00438,HG00621,HG00673,HG00733,HG00735[...]Samples_ID : CHM13,HG00438,HG00621,HG00673,HG00733,HG00735,HG00741,HG01071,HG01243,HG01258,HG01358,HG01361,HG01891,HG01928,HG01952,HG01978,HG02080,HG02145,HG02148,HG02622,HG02630,HG02818,HG03492 |
>47174912>47174914ID : >47174912>47174914 |
TREF : T |
TTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGG[...]ALT : TTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTA |
60QUAL : 60 |
.FILTER : . |
AC=28; AF=0.314607; AN=89; AT=>47174912>[...]INFO : AC=28; AF=0.314607; AN=89; AT=>47174912>47174914,>47174912>47174913>47174914; LV=0; NS=45; e=26672155; s=181; rC=SINE/Alu |
GTFORMAT : GT |
1CHM13 : 1 |
1|0HG00438 : 1|0 |
1|1HG00621 : 1|1 |
1|1HG00673 : 1|1 |
1|1HG00733 : 1|1 |
0|1HG00735 : 0|1 |
1|0HG00741 : 1|0 |
0|1HG01071 : 0|1 |
0|0HG01106 : 0|0 |
0|0HG01109 : 0|0 |
0|0HG01123 : 0|0 |
0|0HG01175 : 0|0 |
0|1HG01243 : 0|1 |
0|1HG01258 : 0|1 |
1|0HG01358 : 1|0 |
1|0HG01361 : 1|0 |
1|0HG01891 : 1|0 |
0|1HG01928 : 0|1 |
1|0HG01952 : 1|0 |
1|0HG01978 : 1|0 |
0|0HG02055 : 0|0 |
1|1HG02080 : 1|1 |
0|0HG02109 : 0|0 |
1|0HG02145 : 1|0 |
0|1HG02148 : 0|1 |
0|0HG02257 : 0|0 |
0|0HG02486 : 0|0 |
0|0HG02559 : 0|0 |
0|0HG02572 : 0|0 |
1|0HG02622 : 1|0 |
1|0HG02630 : 1|0 |
0|0HG02717 : 0|0 |
0|0HG02723 : 0|0 |
0|1HG02818 : 0|1 |
0|0HG02886 : 0|0 |
0|0HG03098 : 0|0 |
0|0HG03453 : 0|0 |
0|0HG03486 : 0|0 |
1|1HG03492 : 1|1 |
0|0HG03516 : 0|0 |
0|0HG03540 : 0|0 |
0|0HG03579 : 0|0 |
0|0NA18906 : 0|0 |
0|0NA20129 : 0|0 |
0|0NA21309 : 0|0 |
|
NAACMG_class : NA AnnotSV_ranking_score : . AnnotSV_ranking_criteria : . |
INSSV_type : INS SV_length : 104 Gene_count : 1 |
fullAnnotation_mode : full |
.Location : . CytoBand : p13.3 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_gain_phen : . po_P_gain_hpo : . po_P_gain_source : dbVar:nssv18326406; dbVar:nssv15169725; dbVar:nssv15168486; dbVar:nssv15168487; dbVar:nssv15128159; dbVar:nssv15127267; dbVar:nssv15148581; dbVar:nssv15146662; dbVar:nssv15148460; dbVar:nssv15168488; dbVar:nssv15150554; dbVar:nssv15146972; dbVar:nssv15147684; dbVar:nssv15146549; dbVar:nssv15147470; dbVar:nssv15145918; nssv15147428; dbVar:nssv15146171; nssv15148277; dbVar:nssv15145821; dbVar:nssv15148068; dbVar:nssv15148988; dbVar:nssv18326363; dbVar:nssv15777263; dbVar:nssv15148176; dbVar:nssv17976764; dbVar:nssv15148245; dbVar:nssv15777248; dbVar:nssv15151115; nssv15153772; nssv17970346; dbVar:nssv15151575; dbVar:nssv15777272; nssv17976989; dbVar:nssv15153773; nssv17970347; nssv17976995; dbVar:nssv16208211; dbVar:nssv15153774; dbVar:nssv15151576; dbVar:nssv17970348; dbVar:nssv15151855; dbVar:nssv15145998; dbVar:nssv15146780; nssv15152141; dbVar:nssv15147478; dbVar:nssv15147388; dbVar:nssv15148881; dbVar:nssv15147961; dbVar:nssv15146218; dbVar:nssv15146173; nssv15146806; dbVar:nssv15146953; dbVar:nssv15146966; dbVar:nssv15606053; dbVar:nssv15146486; dbVar:nssv17970351; dbVar:nssv15147380; dbVar:nssv15142058; dbVar:nssv15138086; dbVar:nssv15138360; dbVar:nssv15137488; dbVar:nssv16254389; dbVar:nssv15133308; dbVar:nssv15776689 po_P_gain_coord : 9:10002-39445729; 9:10591-138217222; 9:10591-138223645; 9:10591-138231797; 9:12935-138262981; 9:12935-66233120; 9:13998-68304962; 9:13998-68401065; 9:32397-39140214; 9:46588-138172039; 9:62526-138111955; 9:163132-138231664; 9:163132-38763961; 9:193413-138114463; 9:193413-138124524; 9:193413-138159073; 9:193413-138179445; 9:193413-70630731; 9:193413-74615913; 9:193413-79877816; 9:203862-128840944; 9:203862-138125936; 9:203862-138125937; 9:203862-35903401; 9:203862-38381642; 9:203862-38472982; 9:203862-38787483; 9:203862-67915728; 9:203862-67919519; 9:203862-67920552; 9:203862-68369672; 9:203862-68370879; 9:203862-70102877; 9:203862-81540484; 9:203862-85574998; 9:203862-88130444; 9:203863-138125937; 9:204105-38768294; 9:204105-66233120; 9:204105-67549861; 9:204194-138179445; 9:204194-38741440; 9:204194-38815478; 9:213162-39092823; 9:213162-66233120; 9:214310-39156961; 9:220254-38815419; 9:353350-138125937; 9:7162305-37038771; 9:17132126-35567054; 9:18344606-68257015; 9:28975664-38787483; 9:31426828-68257015; 9:32192409-38311779; 9:33225731-38529813; 9:34542638-67920552 po_P_gain_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00 po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15132770; dbVar:nssv15144364; dbVar:nssv17173282 po_P_loss_coord : 9:33572682-36782015; 9:34458987-35809465; 9:34459007-36276944 po_P_loss_percent : 0.00; 0.00; 0.00 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . B_loss_source : gnomAD-SV_v3_DEL_chr9_cfa52761 B_loss_coord : chr9:12951494-85461681 B_loss_AFmax : 0.2226 po_B_gain_allG_source : . po_B_gain_allG_coord : . po_B_gain_someG_source : . po_B_gain_someG_coord : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : chr9:12951494-85461681 gnomAD-SV_v3_DEL_chr9_cfa52761 |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 9:34903761-34904798; 9:34904797-34904905 Repeat_type_left : L1PB; L1PB Gap_left : . GC_content_left : 0.410 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 9:34903761-34904798; 9:34904797-34904905 Repeat_type_right : L1PB; L1PB Gap_right : . GC_content_right : 0.405 |
CHM13,HG00438,HG00621,HG00673,HG00733,HG00735[...]Samples_ID : CHM13,HG00438,HG00621,HG00673,HG00733,HG00735,HG00741,HG01071,HG01106,HG01109,HG01123,HG01175,HG01243,HG01258,HG01358,HG01361,HG01891,HG01928,HG01952,HG01978,HG02055,HG02080,HG02109,HG02145,HG02148,HG02257,HG02486,HG02559,HG02572,HG02622,HG02630,HG02717,HG02723,HG02818,HG02886,HG03098,HG03453,HG03486,HG03492,HG03516,HG03540,HG03579,NA18906,NA20129,NA21309 |
>42358236>42358234ID : >42358236>42358234 |
GREF : G |
GGTACCAATTCTTCTTTGAATGTTTGGTAGAATTCTGCTGTGAAT[...]ALT : GGTACCAATTCTTCTTTGAATGTTTGGTAGAATTCTGCTGTGAATCCGTCTGGTCTTGGACTTTTTTTTGTTGGTAATTTTTAAATTACCATTTCAATCTCACTG |
60QUAL : 60 |
.FILTER : . |
AC=81; AF=0.910112; AN=89; AT=>42358236>[...]INFO : AC=81; AF=0.910112; AN=89; AT=>42358236>42358234,>42358236>42358235>42358234; LV=0; NS=45; e=34904798; s=104; rC=LINE/L1 |
GTFORMAT : GT |
1CHM13 : 1 |
1|1HG00438 : 1|1 |
1|0HG00621 : 1|0 |
1|1HG00673 : 1|1 |
1|1HG00733 : 1|1 |
1|1HG00735 : 1|1 |
1|1HG00741 : 1|1 |
1|1HG01071 : 1|1 |
1|1HG01106 : 1|1 |
1|1HG01109 : 1|1 |
1|1HG01123 : 1|1 |
1|1HG01175 : 1|1 |
1|1HG01243 : 1|1 |
1|1HG01258 : 1|1 |
1|1HG01358 : 1|1 |
1|1HG01361 : 1|1 |
1|0HG01891 : 1|0 |
0|1HG01928 : 0|1 |
1|1HG01952 : 1|1 |
1|1HG01978 : 1|1 |
1|0HG02055 : 1|0 |
1|1HG02080 : 1|1 |
0|1HG02109 : 0|1 |
1|1HG02145 : 1|1 |
1|1HG02148 : 1|1 |
1|1HG02257 : 1|1 |
1|1HG02486 : 1|1 |
1|1HG02559 : 1|1 |
1|1HG02572 : 1|1 |
1|1HG02622 : 1|1 |
1|1HG02630 : 1|1 |
1|1HG02717 : 1|1 |
1|1HG02723 : 1|1 |
1|1HG02818 : 1|1 |
1|1HG02886 : 1|1 |
0|1HG03098 : 0|1 |
1|1HG03453 : 1|1 |
1|1HG03486 : 1|1 |
1|1HG03492 : 1|1 |
1|1HG03516 : 1|1 |
1|1HG03540 : 1|1 |
0|1HG03579 : 0|1 |
0|1NA18906 : 0|1 |
1|1NA20129 : 1|1 |
1|1NA21309 : 1|1 |
||
full=NAACMG_class : full=NA |
INSSV_type : INS SV_length : 104 |
splitAnnotation_mode : split |
intron5-intron5Location : intron5-intron5 CytoBand : p13.3 Location2 : CDS Tx : XM_047423102 Tx_version : 1 Tx_start : 34665606 Tx_end : 34982544 Exon_count : 12 Overlapped_tx_length : 1 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 15143 Nearest_SS_type : 5' Intersect_start : 34904797 Intersect_end : 34904798 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . B_loss_source : gnomAD-SV_v3_DEL_chr9_cfa52761 B_loss_coord : chr9:12951494-85461681 B_loss_AFmax : 0.2226 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
CHM13,HG00438,HG00621,HG00673,HG00733,HG00735[...]Samples_ID : CHM13,HG00438,HG00621,HG00673,HG00733,HG00735,HG00741,HG01071,HG01106,HG01109,HG01123,HG01175,HG01243,HG01258,HG01358,HG01361,HG01891,HG01928,HG01952,HG01978,HG02055,HG02080,HG02109,HG02145,HG02148,HG02257,HG02486,HG02559,HG02572,HG02622,HG02630,HG02717,HG02723,HG02818,HG02886,HG03098,HG03453,HG03486,HG03492,HG03516,HG03540,HG03579,NA18906,NA20129,NA21309 |
>42358236>42358234ID : >42358236>42358234 |
GREF : G |
GGTACCAATTCTTCTTTGAATGTTTGGTAGAATTCTGCTGTGAAT[...]ALT : GGTACCAATTCTTCTTTGAATGTTTGGTAGAATTCTGCTGTGAATCCGTCTGGTCTTGGACTTTTTTTTGTTGGTAATTTTTAAATTACCATTTCAATCTCACTG |
60QUAL : 60 |
.FILTER : . |
AC=81; AF=0.910112; AN=89; AT=>42358236>[...]INFO : AC=81; AF=0.910112; AN=89; AT=>42358236>42358234,>42358236>42358235>42358234; LV=0; NS=45; e=34904798; s=104; rC=LINE/L1 |
GTFORMAT : GT |
1CHM13 : 1 |
1|1HG00438 : 1|1 |
1|0HG00621 : 1|0 |
1|1HG00673 : 1|1 |
1|1HG00733 : 1|1 |
1|1HG00735 : 1|1 |
1|1HG00741 : 1|1 |
1|1HG01071 : 1|1 |
1|1HG01106 : 1|1 |
1|1HG01109 : 1|1 |
1|1HG01123 : 1|1 |
1|1HG01175 : 1|1 |
1|1HG01243 : 1|1 |
1|1HG01258 : 1|1 |
1|1HG01358 : 1|1 |
1|1HG01361 : 1|1 |
1|0HG01891 : 1|0 |
0|1HG01928 : 0|1 |
1|1HG01952 : 1|1 |
1|1HG01978 : 1|1 |
1|0HG02055 : 1|0 |
1|1HG02080 : 1|1 |
0|1HG02109 : 0|1 |
1|1HG02145 : 1|1 |
1|1HG02148 : 1|1 |
1|1HG02257 : 1|1 |
1|1HG02486 : 1|1 |
1|1HG02559 : 1|1 |
1|1HG02572 : 1|1 |
1|1HG02622 : 1|1 |
1|1HG02630 : 1|1 |
1|1HG02717 : 1|1 |
1|1HG02723 : 1|1 |
1|1HG02818 : 1|1 |
1|1HG02886 : 1|1 |
0|1HG03098 : 0|1 |
1|1HG03453 : 1|1 |
1|1HG03486 : 1|1 |
1|1HG03492 : 1|1 |
1|1HG03516 : 1|1 |
1|1HG03540 : 1|1 |
0|1HG03579 : 0|1 |
0|1NA18906 : 0|1 |
1|1NA20129 : 1|1 |
1|1NA21309 : 1|1 |
||
NAACMG_class : NA AnnotSV_ranking_score : . AnnotSV_ranking_criteria : . |
INSSV_type : INS SV_length : 305 Gene_count : 1 |
fullAnnotation_mode : full |
.Location : . CytoBand : p13.3 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
PIGO (morbid/RE=GH_enhancer); RE_gene : PIGO (morbid/RE=GH_enhancer); |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_gain_phen : . po_P_gain_hpo : . po_P_gain_source : dbVar:nssv18326406; dbVar:nssv15169725; dbVar:nssv15168486; dbVar:nssv15168487; dbVar:nssv15128159; dbVar:nssv15127267; dbVar:nssv15148581; dbVar:nssv15146662; dbVar:nssv15148460; dbVar:nssv15168488; dbVar:nssv15150554; dbVar:nssv15146972; dbVar:nssv15147684; dbVar:nssv15146549; dbVar:nssv15147470; dbVar:nssv15145918; nssv15147428; dbVar:nssv15146171; nssv15148277; dbVar:nssv15145821; dbVar:nssv15148068; dbVar:nssv15148988; dbVar:nssv18326363; dbVar:nssv15777263; dbVar:nssv15148176; dbVar:nssv17976764; dbVar:nssv15148245; dbVar:nssv15777248; dbVar:nssv15151115; nssv15153772; nssv17970346; dbVar:nssv15151575; dbVar:nssv15777272; nssv17976989; dbVar:nssv15153773; nssv17970347; nssv17976995; dbVar:nssv16208211; dbVar:nssv15153774; dbVar:nssv15151576; dbVar:nssv17970348; dbVar:nssv15151855; dbVar:nssv15145998; dbVar:nssv15146780; nssv15152141; dbVar:nssv15147478; dbVar:nssv15147388; dbVar:nssv15148881; dbVar:nssv15147961; dbVar:nssv15146218; dbVar:nssv15146173; nssv15146806; dbVar:nssv15146953; dbVar:nssv15146966; dbVar:nssv15606053; dbVar:nssv15146486; dbVar:nssv17970351; dbVar:nssv15147380; dbVar:nssv15142058; dbVar:nssv15138086; dbVar:nssv15138360; dbVar:nssv15137488; dbVar:nssv16254389; dbVar:nssv15133308; dbVar:nssv15776689 po_P_gain_coord : 9:10002-39445729; 9:10591-138217222; 9:10591-138223645; 9:10591-138231797; 9:12935-138262981; 9:12935-66233120; 9:13998-68304962; 9:13998-68401065; 9:32397-39140214; 9:46588-138172039; 9:62526-138111955; 9:163132-138231664; 9:163132-38763961; 9:193413-138114463; 9:193413-138124524; 9:193413-138159073; 9:193413-138179445; 9:193413-70630731; 9:193413-74615913; 9:193413-79877816; 9:203862-128840944; 9:203862-138125936; 9:203862-138125937; 9:203862-35903401; 9:203862-38381642; 9:203862-38472982; 9:203862-38787483; 9:203862-67915728; 9:203862-67919519; 9:203862-67920552; 9:203862-68369672; 9:203862-68370879; 9:203862-70102877; 9:203862-81540484; 9:203862-85574998; 9:203862-88130444; 9:203863-138125937; 9:204105-38768294; 9:204105-66233120; 9:204105-67549861; 9:204194-138179445; 9:204194-38741440; 9:204194-38815478; 9:213162-39092823; 9:213162-66233120; 9:214310-39156961; 9:220254-38815419; 9:353350-138125937; 9:7162305-37038771; 9:17132126-35567054; 9:18344606-68257015; 9:28975664-38787483; 9:31426828-68257015; 9:32192409-38311779; 9:33225731-38529813; 9:34542638-67920552 po_P_gain_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00 po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15132770; dbVar:nssv15144364; dbVar:nssv17173282 po_P_loss_coord : 9:33572682-36782015; 9:34458987-35809465; 9:34459007-36276944 po_P_loss_percent : 0.00; 0.00; 0.00 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . B_loss_source : dbVar; gnomAD-SV_v3_DEL_chr9_cfa52761 B_loss_coord : chr9:12951494-85461681; chr9:34765893-34792191 B_loss_AFmax : 0.2226 po_B_gain_allG_source : . po_B_gain_allG_coord : . po_B_gain_someG_source : . po_B_gain_someG_coord : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : chr9:34765893-34792191 dbVar po_B_loss_someG_coord : chr9:12951494-85461681 gnomAD-SV_v3_DEL_chr9_cfa52761 |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 9:34770832-34771133 Repeat_type_left : AluSq2 Gap_left : . GC_content_left : 0.410 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 9:34770832-34771133 Repeat_type_right : AluSq2 Gap_right : . GC_content_right : 0.415 |
CHM13,HG01175,NA20129Samples_ID : CHM13,HG01175,NA20129 |
>42360918>42360916ID : >42360918>42360916 |
AREF : A |
AAAAAAAATTAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG[...]ALT : AAAAAAAATTAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAA |
60QUAL : 60 |
.FILTER : . |
AC=2; AF=0.0224719; AN=89; AT=>42360918>[...]INFO : AC=2; AF=0.0224719; AN=89; AT=>42360918>42360916,>42360918<42360917>42360916; LV=0; NS=45; e=34770774; s=305; rC=SINE/Alu |
GTFORMAT : GT |
0CHM13 : 0 |
0|0HG00438 : 0|0 |
0|0HG00621 : 0|0 |
0|0HG00673 : 0|0 |
0|0HG00733 : 0|0 |
0|0HG00735 : 0|0 |
0|0HG00741 : 0|0 |
0|0HG01071 : 0|0 |
0|0HG01106 : 0|0 |
0|0HG01109 : 0|0 |
0|0HG01123 : 0|0 |
0|1HG01175 : 0|1 |
0|0HG01243 : 0|0 |
0|0HG01258 : 0|0 |
0|0HG01358 : 0|0 |
0|0HG01361 : 0|0 |
0|0HG01891 : 0|0 |
0|0HG01928 : 0|0 |
0|0HG01952 : 0|0 |
0|0HG01978 : 0|0 |
0|0HG02055 : 0|0 |
0|0HG02080 : 0|0 |
0|0HG02109 : 0|0 |
0|0HG02145 : 0|0 |
0|0HG02148 : 0|0 |
0|0HG02257 : 0|0 |
0|0HG02486 : 0|0 |
0|0HG02559 : 0|0 |
0|0HG02572 : 0|0 |
0|0HG02622 : 0|0 |
0|0HG02630 : 0|0 |
0|0HG02717 : 0|0 |
0|0HG02723 : 0|0 |
0|0HG02818 : 0|0 |
0|0HG02886 : 0|0 |
0|0HG03098 : 0|0 |
0|0HG03453 : 0|0 |
0|0HG03486 : 0|0 |
0|0HG03492 : 0|0 |
0|0HG03516 : 0|0 |
0|0HG03540 : 0|0 |
0|0HG03579 : 0|0 |
0|0NA18906 : 0|0 |
0|1NA20129 : 0|1 |
0|0NA21309 : 0|0 |
||
full=NAACMG_class : full=NA |
INSSV_type : INS SV_length : 305 |
splitAnnotation_mode : split |
intron4-intron4Location : intron4-intron4 CytoBand : p13.3 Location2 : CDS Tx : XM_047423102 Tx_version : 1 Tx_start : 34665606 Tx_end : 34982544 Exon_count : 12 Overlapped_tx_length : 1 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 67735 Nearest_SS_type : 5' Intersect_start : 34770773 Intersect_end : 34770774 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . B_loss_source : dbVar; gnomAD-SV_v3_DEL_chr9_cfa52761 B_loss_coord : chr9:12951494-85461681; chr9:34765893-34792191 B_loss_AFmax : 0.2226 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
CHM13,HG01175,NA20129Samples_ID : CHM13,HG01175,NA20129 |
>42360918>42360916ID : >42360918>42360916 |
AREF : A |
AAAAAAAATTAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG[...]ALT : AAAAAAAATTAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAA |
60QUAL : 60 |
.FILTER : . |
AC=2; AF=0.0224719; AN=89; AT=>42360918>[...]INFO : AC=2; AF=0.0224719; AN=89; AT=>42360918>42360916,>42360918<42360917>42360916; LV=0; NS=45; e=34770774; s=305; rC=SINE/Alu |
GTFORMAT : GT |
0CHM13 : 0 |
0|0HG00438 : 0|0 |
0|0HG00621 : 0|0 |
0|0HG00673 : 0|0 |
0|0HG00733 : 0|0 |
0|0HG00735 : 0|0 |
0|0HG00741 : 0|0 |
0|0HG01071 : 0|0 |
0|0HG01106 : 0|0 |
0|0HG01109 : 0|0 |
0|0HG01123 : 0|0 |
0|1HG01175 : 0|1 |
0|0HG01243 : 0|0 |
0|0HG01258 : 0|0 |
0|0HG01358 : 0|0 |
0|0HG01361 : 0|0 |
0|0HG01891 : 0|0 |
0|0HG01928 : 0|0 |
0|0HG01952 : 0|0 |
0|0HG01978 : 0|0 |
0|0HG02055 : 0|0 |
0|0HG02080 : 0|0 |
0|0HG02109 : 0|0 |
0|0HG02145 : 0|0 |
0|0HG02148 : 0|0 |
0|0HG02257 : 0|0 |
0|0HG02486 : 0|0 |
0|0HG02559 : 0|0 |
0|0HG02572 : 0|0 |
0|0HG02622 : 0|0 |
0|0HG02630 : 0|0 |
0|0HG02717 : 0|0 |
0|0HG02723 : 0|0 |
0|0HG02818 : 0|0 |
0|0HG02886 : 0|0 |
0|0HG03098 : 0|0 |
0|0HG03453 : 0|0 |
0|0HG03486 : 0|0 |
0|0HG03492 : 0|0 |
0|0HG03516 : 0|0 |
0|0HG03540 : 0|0 |
0|0HG03579 : 0|0 |
0|0NA18906 : 0|0 |
0|1NA20129 : 0|1 |
0|0NA21309 : 0|0 |
||
NAACMG_class : NA AnnotSV_ranking_score : . AnnotSV_ranking_criteria : . |
INSSV_type : INS SV_length : 167 Gene_count : 1 |
fullAnnotation_mode : full |
.Location : . CytoBand : q22.1 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_gain_phen : . po_P_gain_hpo : . po_P_gain_source : dbVar:nssv15169207; dbVar:nssv15128680; dbVar:nssv15161801; nssv15777239; nssv17976962; dbVar:nssv15161417; nssv15161657; dbVar:nssv15161846; dbVar:nssv15169210; dbVar:nssv15161105; dbVar:nssv15161269; dbVar:nssv15161748; dbVar:nssv15161087; dbVar:nssv15161426; dbVar:nssv15161357; dbVar:nssv15777249; dbVar:nssv15161797; dbVar:nssv18326351; dbVar:nssv17970300; dbVar:nssv15161337; dbVar:nssv18330266; dbVar:nssv15161103; dbVar:nssv17977109; dbVar:nssv15161374; dbVar:nssv15154586; dbVar:nssv15161674; dbVar:nssv15161669; dbVar:nssv15161773; dbVar:nssv15161791; dbVar:nssv15161680 po_P_gain_coord : 8:60214-145068028; 8:63939-145078636; 8:208049-145070385; 8:208050-145070385; 8:208992-145055442; 8:214985-145068028; 8:226453-145068712; 8:241531-145049449; 8:241531-145054634; 8:241606-145054781; 8:12633491-145070385; 8:21291523-145070385; 8:32079036-145070385; 8:46031341-139285494; 8:68000198-145070385; 8:69470756-145070385; 8:77480051-145068712; 8:78497115-118028392; 8:78614078-145054634; 8:83800019-145070385; 8:85766000-145070385; 8:85828926-115505898; 8:85828926-145070385; 8:85829000-141679774; 8:86300585-137022587; 8:87931153-145068712; 8:92035255-140345536 po_P_gain_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00 po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15147911; dbVar:nssv18830833; dbVar:nssv15134486; dbVar:nssv15122044; dbVar:nssv15122045; dbVar:nssv15152092; dbVar:nssv15131800; dbVar:nssv15120391 po_P_loss_coord : 8:78672464-95366868; 8:88167671-96966046; 8:90940997-94538343; 8:92283180-95786443; 8:92287063-95786443; 8:92379554-95560378; 8:92755533-97792132; 8:93038176-95667782 po_P_loss_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . B_loss_source : dbVar B_loss_coord : chr8:94383575-94552987 B_loss_AFmax : 0.01 po_B_gain_allG_source : . po_B_gain_allG_coord : . po_B_gain_someG_source : . po_B_gain_someG_coord : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : chr8:94383575-94552987 dbVar |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 8:94491032-94491324 Repeat_type_left : AluSz Gap_left : . GC_content_left : 0.485 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 8:94491032-94491324 Repeat_type_right : AluSz Gap_right : . GC_content_right : 0.485 |
CHM13,HG00438,HG01258,HG01891,HG02055,HG02486[...]Samples_ID : CHM13,HG00438,HG01258,HG01891,HG02055,HG02486,HG02559,HG02717,HG02723,HG02886,HG03098,HG03453,HG03486,HG03516,HG03540,NA21309 |
>39440483>39440485ID : >39440483>39440485 |
AREF : A |
AATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTG[...]ALT : AATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACACAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAA |
60QUAL : 60 |
.FILTER : . |
AC=19; AF=0.213483; AN=89; AT=>39440483>[...]INFO : AC=19; AF=0.213483; AN=89; AT=>39440483>39440485,>39440483<39440484>39440485; LV=0; NS=45; e=94491164; s=167; rC=SINE/Alu |
GTFORMAT : GT |
0CHM13 : 0 |
0|1HG00438 : 0|1 |
0|0HG00621 : 0|0 |
0|0HG00673 : 0|0 |
0|0HG00733 : 0|0 |
0|0HG00735 : 0|0 |
0|0HG00741 : 0|0 |
0|0HG01071 : 0|0 |
0|0HG01106 : 0|0 |
0|0HG01109 : 0|0 |
0|0HG01123 : 0|0 |
0|0HG01175 : 0|0 |
0|0HG01243 : 0|0 |
1|0HG01258 : 1|0 |
0|0HG01358 : 0|0 |
0|0HG01361 : 0|0 |
1|1HG01891 : 1|1 |
0|0HG01928 : 0|0 |
0|0HG01952 : 0|0 |
0|0HG01978 : 0|0 |
1|1HG02055 : 1|1 |
0|0HG02080 : 0|0 |
0|0HG02109 : 0|0 |
0|0HG02145 : 0|0 |
0|0HG02148 : 0|0 |
0|0HG02257 : 0|0 |
0|1HG02486 : 0|1 |
0|1HG02559 : 0|1 |
0|0HG02572 : 0|0 |
0|0HG02622 : 0|0 |
0|0HG02630 : 0|0 |
1|1HG02717 : 1|1 |
1|0HG02723 : 1|0 |
0|0HG02818 : 0|0 |
0|1HG02886 : 0|1 |
1|0HG03098 : 1|0 |
0|1HG03453 : 0|1 |
0|1HG03486 : 0|1 |
0|0HG03492 : 0|0 |
0|1HG03516 : 0|1 |
1|1HG03540 : 1|1 |
0|0HG03579 : 0|0 |
0|0NA18906 : 0|0 |
0|0NA20129 : 0|0 |
1|0NA21309 : 1|0 |
||
full=NAACMG_class : full=NA |
INSSV_type : INS SV_length : 167 |
splitAnnotation_mode : split |
intron18-intron18Location : intron18-intron18 CytoBand : q22.1 Location2 : CDS Tx : XM_047421678 Tx_version : 1 Tx_start : 94487688 Tx_end : 94537144 Exon_count : 20 Overlapped_tx_length : 1 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 413 Nearest_SS_type : 5' Intersect_start : 94491163 Intersect_end : 94491164 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . B_loss_source : dbVar B_loss_coord : chr8:94383575-94552987 B_loss_AFmax : 0.01 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
CHM13,HG00438,HG01258,HG01891,HG02055,HG02486[...]Samples_ID : CHM13,HG00438,HG01258,HG01891,HG02055,HG02486,HG02559,HG02717,HG02723,HG02886,HG03098,HG03453,HG03486,HG03516,HG03540,NA21309 |
>39440483>39440485ID : >39440483>39440485 |
AREF : A |
AATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTG[...]ALT : AATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACACAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAA |
60QUAL : 60 |
.FILTER : . |
AC=19; AF=0.213483; AN=89; AT=>39440483>[...]INFO : AC=19; AF=0.213483; AN=89; AT=>39440483>39440485,>39440483<39440484>39440485; LV=0; NS=45; e=94491164; s=167; rC=SINE/Alu |
GTFORMAT : GT |
0CHM13 : 0 |
0|1HG00438 : 0|1 |
0|0HG00621 : 0|0 |
0|0HG00673 : 0|0 |
0|0HG00733 : 0|0 |
0|0HG00735 : 0|0 |
0|0HG00741 : 0|0 |
0|0HG01071 : 0|0 |
0|0HG01106 : 0|0 |
0|0HG01109 : 0|0 |
0|0HG01123 : 0|0 |
0|0HG01175 : 0|0 |
0|0HG01243 : 0|0 |
1|0HG01258 : 1|0 |
0|0HG01358 : 0|0 |
0|0HG01361 : 0|0 |
1|1HG01891 : 1|1 |
0|0HG01928 : 0|0 |
0|0HG01952 : 0|0 |
0|0HG01978 : 0|0 |
1|1HG02055 : 1|1 |
0|0HG02080 : 0|0 |
0|0HG02109 : 0|0 |
0|0HG02145 : 0|0 |
0|0HG02148 : 0|0 |
0|0HG02257 : 0|0 |
0|1HG02486 : 0|1 |
0|1HG02559 : 0|1 |
0|0HG02572 : 0|0 |
0|0HG02622 : 0|0 |
0|0HG02630 : 0|0 |
1|1HG02717 : 1|1 |
1|0HG02723 : 1|0 |
0|0HG02818 : 0|0 |
0|1HG02886 : 0|1 |
1|0HG03098 : 1|0 |
0|1HG03453 : 0|1 |
0|1HG03486 : 0|1 |
0|0HG03492 : 0|0 |
0|1HG03516 : 0|1 |
1|1HG03540 : 1|1 |
0|0HG03579 : 0|0 |
0|0NA18906 : 0|0 |
0|0NA20129 : 0|0 |
1|0NA21309 : 1|0 |
||
NAACMG_class : NA AnnotSV_ranking_score : . AnnotSV_ranking_criteria : . |
INSSV_type : INS SV_length : 215 Gene_count : 1 |
fullAnnotation_mode : full |
ST18Gene_name : ST18; LOEUF_bin : 1 GnomAD_pLI : 9.9459e-01 ExAC_pLI : 9.9901e-01 HI : . TS : . DDD_HI_percent : 15.51 ExAC_cnvZ : 0.604527336056182 ExAC_delZ : 1.23482767451879 ExAC_dupZ : 0.154890483409777 ExAC_synZ : -0.325924461949738 ExAC_misZ : -0.699089013983542 Closest_left : LOC101929341 Closest_right : ALKAL1 |
.Location : . CytoBand : q11.23 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_gain_phen : . po_P_gain_hpo : . po_P_gain_source : dbVar:nssv15169207; dbVar:nssv15128680; dbVar:nssv15161801; nssv15777239; nssv17976962; dbVar:nssv15161417; nssv15161657; dbVar:nssv15161846; dbVar:nssv15169210; dbVar:nssv15161105; dbVar:nssv15161269; dbVar:nssv15161748; dbVar:nssv15161087; dbVar:nssv15161426; dbVar:nssv15161357; dbVar:nssv15777249; dbVar:nssv15147495; dbVar:nssv15774700; dbVar:nssv15161758; dbVar:nssv15161797 po_P_gain_coord : 8:60214-145068028; 8:63939-145078636; 8:208049-145070385; 8:208050-145070385; 8:208992-145055442; 8:214985-145068028; 8:226453-145068712; 8:241531-145049449; 8:241531-145054634; 8:241606-145054781; 8:12633491-145070385; 8:21291523-145070385; 8:32079036-145070385; 8:36580104-59618998; 8:39698139-63136530; 8:46031335-69303787; 8:46031341-139285494 po_P_gain_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00 po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15167540; dbVar:nssv15148967 po_P_loss_coord : 8:48909925-57910043; 8:49471779-57825470 po_P_loss_percent : 0.00; 0.00 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_gain_allG_source : . po_B_gain_allG_coord : . po_B_gain_someG_source : . po_B_gain_someG_coord : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : . Repeat_type_left : . Gap_left : . GC_content_left : 0.400 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : . Repeat_type_right : . Gap_right : . GC_content_right : 0.395 |
CHM13,HG02109,HG02145,HG02559,HG02572,HG02717[...]Samples_ID : CHM13,HG02109,HG02145,HG02559,HG02572,HG02717,HG02723,HG03516,NA18906,NA20129,NA21309 |
>38509440>38509442ID : >38509440>38509442 |
GREF : G |
GGCTGAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCG[...]ALT : GGCTGAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCTGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAGAAAGAAATCTG |
60QUAL : 60 |
.FILTER : . |
AC=10; AF=0.11236; AN=89; AT=>38509440>[...]INFO : AC=10; AF=0.11236; AN=89; AT=>38509440>38509442,>38509440<38509441>38509442; LV=0; NS=45; e=52260464; s=215; rC=SINE/Alu |
GTFORMAT : GT |
0CHM13 : 0 |
0|0HG00438 : 0|0 |
0|0HG00621 : 0|0 |
0|0HG00673 : 0|0 |
0|0HG00733 : 0|0 |
0|0HG00735 : 0|0 |
0|0HG00741 : 0|0 |
0|0HG01071 : 0|0 |
0|0HG01106 : 0|0 |
0|0HG01109 : 0|0 |
0|0HG01123 : 0|0 |
0|0HG01175 : 0|0 |
0|0HG01243 : 0|0 |
0|0HG01258 : 0|0 |
0|0HG01358 : 0|0 |
0|0HG01361 : 0|0 |
0|0HG01891 : 0|0 |
0|0HG01928 : 0|0 |
0|0HG01952 : 0|0 |
0|0HG01978 : 0|0 |
0|0HG02055 : 0|0 |
0|0HG02080 : 0|0 |
1|0HG02109 : 1|0 |
0|1HG02145 : 0|1 |
0|0HG02148 : 0|0 |
0|0HG02257 : 0|0 |
0|0HG02486 : 0|0 |
0|1HG02559 : 0|1 |
0|1HG02572 : 0|1 |
0|0HG02622 : 0|0 |
0|0HG02630 : 0|0 |
1|0HG02717 : 1|0 |
1|0HG02723 : 1|0 |
0|0HG02818 : 0|0 |
0|0HG02886 : 0|0 |
0|0HG03098 : 0|0 |
0|0HG03453 : 0|0 |
0|0HG03486 : 0|0 |
0|0HG03492 : 0|0 |
0|1HG03516 : 0|1 |
0|0HG03540 : 0|0 |
0|0HG03579 : 0|0 |
1|0NA18906 : 1|0 |
1|0NA20129 : 1|0 |
1|0NA21309 : 1|0 |
|
full=NAACMG_class : full=NA |
INSSV_type : INS SV_length : 215 |
splitAnnotation_mode : split |
ST18Gene_name : ST18; LOEUF_bin : 1 GnomAD_pLI : 9.9459e-01 ExAC_pLI : 9.9901e-01 HI : . TS : . DDD_HI_percent : 15.51 ACMG : . ExAC_cnvZ : 0.604527336056182 ExAC_delZ : 1.23482767451879 ExAC_dupZ : 0.154890483409777 ExAC_synZ : -0.325924461949738 ExAC_misZ : -0.699089013983542 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 9705 |
intron2-intron2Location : intron2-intron2 CytoBand : q11.23 Location2 : 5'UTR Tx : NM_001352826 Tx_version : 2 Tx_start : 52110837 Tx_end : 52409756 Exon_count : 26 Overlapped_tx_length : 1 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 13799 Nearest_SS_type : 3' Intersect_start : 52260463 Intersect_end : 52260464 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
CHM13,HG02109,HG02145,HG02559,HG02572,HG02717[...]Samples_ID : CHM13,HG02109,HG02145,HG02559,HG02572,HG02717,HG02723,HG03516,NA18906,NA20129,NA21309 |
>38509440>38509442ID : >38509440>38509442 |
GREF : G |
GGCTGAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCG[...]ALT : GGCTGAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCTGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAGAAAGAAATCTG |
60QUAL : 60 |
.FILTER : . |
AC=10; AF=0.11236; AN=89; AT=>38509440>[...]INFO : AC=10; AF=0.11236; AN=89; AT=>38509440>38509442,>38509440<38509441>38509442; LV=0; NS=45; e=52260464; s=215; rC=SINE/Alu |
GTFORMAT : GT |
0CHM13 : 0 |
0|0HG00438 : 0|0 |
0|0HG00621 : 0|0 |
0|0HG00673 : 0|0 |
0|0HG00733 : 0|0 |
0|0HG00735 : 0|0 |
0|0HG00741 : 0|0 |
0|0HG01071 : 0|0 |
0|0HG01106 : 0|0 |
0|0HG01109 : 0|0 |
0|0HG01123 : 0|0 |
0|0HG01175 : 0|0 |
0|0HG01243 : 0|0 |
0|0HG01258 : 0|0 |
0|0HG01358 : 0|0 |
0|0HG01361 : 0|0 |
0|0HG01891 : 0|0 |
0|0HG01928 : 0|0 |
0|0HG01952 : 0|0 |
0|0HG01978 : 0|0 |
0|0HG02055 : 0|0 |
0|0HG02080 : 0|0 |
1|0HG02109 : 1|0 |
0|1HG02145 : 0|1 |
0|0HG02148 : 0|0 |
0|0HG02257 : 0|0 |
0|0HG02486 : 0|0 |
0|1HG02559 : 0|1 |
0|1HG02572 : 0|1 |
0|0HG02622 : 0|0 |
0|0HG02630 : 0|0 |
1|0HG02717 : 1|0 |
1|0HG02723 : 1|0 |
0|0HG02818 : 0|0 |
0|0HG02886 : 0|0 |
0|0HG03098 : 0|0 |
0|0HG03453 : 0|0 |
0|0HG03486 : 0|0 |
0|0HG03492 : 0|0 |
0|1HG03516 : 0|1 |
0|0HG03540 : 0|0 |
0|0HG03579 : 0|0 |
1|0NA18906 : 1|0 |
1|0NA20129 : 1|0 |
1|0NA21309 : 1|0 |
|
NAACMG_class : NA AnnotSV_ranking_score : . AnnotSV_ranking_criteria : . |
INSSV_type : INS SV_length : 340 Gene_count : 1 |
fullAnnotation_mode : full |
PXDNLGene_name : PXDNL; LOEUF_bin : 6 GnomAD_pLI : 2.2028e-35 ExAC_pLI : 1.9368e-27 HI : . TS : . DDD_HI_percent : 85.15 ExAC_cnvZ : -0.499260430055122 ExAC_delZ : -0.456851350356162 ExAC_dupZ : -0.49969613839313 ExAC_synZ : 1.18391640274789 ExAC_misZ : -0.36274895648455 Closest_left : LOC105375831 Closest_right : LOC105375833 |
.Location : . CytoBand : q11.22 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_gain_phen : . po_P_gain_hpo : . po_P_gain_source : dbVar:nssv15169207; dbVar:nssv15128680; dbVar:nssv15161801; nssv15777239; nssv17976962; dbVar:nssv15161417; nssv15161657; dbVar:nssv15161846; dbVar:nssv15169210; dbVar:nssv15161105; dbVar:nssv15161269; dbVar:nssv15161748; dbVar:nssv15161087; dbVar:nssv15161426; dbVar:nssv15161357; dbVar:nssv15777249; dbVar:nssv15147495; dbVar:nssv15774700; dbVar:nssv15161758; dbVar:nssv15161797 po_P_gain_coord : 8:60214-145068028; 8:63939-145078636; 8:208049-145070385; 8:208050-145070385; 8:208992-145055442; 8:214985-145068028; 8:226453-145068712; 8:241531-145049449; 8:241531-145054634; 8:241606-145054781; 8:12633491-145070385; 8:21291523-145070385; 8:32079036-145070385; 8:36580104-59618998; 8:39698139-63136530; 8:46031335-69303787; 8:46031341-139285494 po_P_gain_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00 po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15167540; dbVar:nssv15148967 po_P_loss_coord : 8:48909925-57910043; 8:49471779-57825470 po_P_loss_percent : 0.00; 0.00 |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_gain_source : dbVar B_gain_coord : chr8:51272704-51631269 B_gain_AFmax : 0.01 B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_gain_allG_source : . po_B_gain_allG_coord : . po_B_gain_someG_source : . po_B_gain_someG_coord : chr8:51272704-51631269 dbVar po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 8:51546394-51552831 Repeat_type_left : L1PB1 Gap_left : . GC_content_left : 0.365 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 8:51546394-51552831 Repeat_type_right : L1PB1 Gap_right : . GC_content_right : 0.370 |
CHM13,NA18906Samples_ID : CHM13,NA18906 |
>38492312>38492314ID : >38492312>38492314 |
TREF : T |
TTCTTATTTTATTTTATTTTATTTTATTTTATTTTTTTTTTTTTT[...]ALT : TTCTTATTTTATTTTATTTTATTTTATTTTATTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTGCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTGGAGAT |
60QUAL : 60 |
.FILTER : . |
AC=1; AF=0.011236; AN=89; AT=>38492312>[...]INFO : AC=1; AF=0.011236; AN=89; AT=>38492312>38492314,>38492312>38492313>38492314; LV=0; NS=45; e=51552275; s=340; rC=SINE/Alu |
GTFORMAT : GT |
0CHM13 : 0 |
0|0HG00438 : 0|0 |
0|0HG00621 : 0|0 |
0|0HG00673 : 0|0 |
0|0HG00733 : 0|0 |
0|0HG00735 : 0|0 |
0|0HG00741 : 0|0 |
0|0HG01071 : 0|0 |
0|0HG01106 : 0|0 |
0|0HG01109 : 0|0 |
0|0HG01123 : 0|0 |
0|0HG01175 : 0|0 |
0|0HG01243 : 0|0 |
0|0HG01258 : 0|0 |
0|0HG01358 : 0|0 |
0|0HG01361 : 0|0 |
0|0HG01891 : 0|0 |
0|0HG01928 : 0|0 |
0|0HG01952 : 0|0 |
0|0HG01978 : 0|0 |
0|0HG02055 : 0|0 |
0|0HG02080 : 0|0 |
0|0HG02109 : 0|0 |
0|0HG02145 : 0|0 |
0|0HG02148 : 0|0 |
0|0HG02257 : 0|0 |
0|0HG02486 : 0|0 |
0|0HG02559 : 0|0 |
0|0HG02572 : 0|0 |
0|0HG02622 : 0|0 |
0|0HG02630 : 0|0 |
0|0HG02717 : 0|0 |
0|0HG02723 : 0|0 |
0|0HG02818 : 0|0 |
0|0HG02886 : 0|0 |
0|0HG03098 : 0|0 |
0|0HG03453 : 0|0 |
0|0HG03486 : 0|0 |
0|0HG03492 : 0|0 |
0|0HG03516 : 0|0 |
0|0HG03540 : 0|0 |
0|0HG03579 : 0|0 |
0|1NA18906 : 0|1 |
0|0NA20129 : 0|0 |
0|0NA21309 : 0|0 |
|
full=NAACMG_class : full=NA |
INSSV_type : INS SV_length : 340 |
splitAnnotation_mode : split |
PXDNLGene_name : PXDNL; LOEUF_bin : 6 GnomAD_pLI : 2.2028e-35 ExAC_pLI : 1.9368e-27 HI : . TS : . DDD_HI_percent : 85.15 ACMG : . ExAC_cnvZ : -0.499260430055122 ExAC_delZ : -0.456851350356162 ExAC_dupZ : -0.49969613839313 ExAC_synZ : 1.18391640274789 ExAC_misZ : -0.36274895648455 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 137902 |
intron1-intron1Location : intron1-intron1 CytoBand : q11.22 Location2 : 5'UTR Tx : XM_011517458 Tx_version : 3 Tx_start : 51319576 Tx_end : 51556911 Exon_count : 21 Overlapped_tx_length : 1 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 4564 Nearest_SS_type : 5' Intersect_start : 51552274 Intersect_end : 51552275 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_gain_source : dbVar B_gain_coord : chr8:51272704-51631269 B_gain_AFmax : 0.01 B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
CHM13,NA18906Samples_ID : CHM13,NA18906 |
>38492312>38492314ID : >38492312>38492314 |
TREF : T |
TTCTTATTTTATTTTATTTTATTTTATTTTATTTTTTTTTTTTTT[...]ALT : TTCTTATTTTATTTTATTTTATTTTATTTTATTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTGCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTGGAGAT |
60QUAL : 60 |
.FILTER : . |
AC=1; AF=0.011236; AN=89; AT=>38492312>[...]INFO : AC=1; AF=0.011236; AN=89; AT=>38492312>38492314,>38492312>38492313>38492314; LV=0; NS=45; e=51552275; s=340; rC=SINE/Alu |
GTFORMAT : GT |
0CHM13 : 0 |
0|0HG00438 : 0|0 |
0|0HG00621 : 0|0 |
0|0HG00673 : 0|0 |
0|0HG00733 : 0|0 |
0|0HG00735 : 0|0 |
0|0HG00741 : 0|0 |
0|0HG01071 : 0|0 |
0|0HG01106 : 0|0 |
0|0HG01109 : 0|0 |
0|0HG01123 : 0|0 |
0|0HG01175 : 0|0 |
0|0HG01243 : 0|0 |
0|0HG01258 : 0|0 |
0|0HG01358 : 0|0 |
0|0HG01361 : 0|0 |
0|0HG01891 : 0|0 |
0|0HG01928 : 0|0 |
0|0HG01952 : 0|0 |
0|0HG01978 : 0|0 |
0|0HG02055 : 0|0 |
0|0HG02080 : 0|0 |
0|0HG02109 : 0|0 |
0|0HG02145 : 0|0 |
0|0HG02148 : 0|0 |
0|0HG02257 : 0|0 |
0|0HG02486 : 0|0 |
0|0HG02559 : 0|0 |
0|0HG02572 : 0|0 |
0|0HG02622 : 0|0 |
0|0HG02630 : 0|0 |
0|0HG02717 : 0|0 |
0|0HG02723 : 0|0 |
0|0HG02818 : 0|0 |
0|0HG02886 : 0|0 |
0|0HG03098 : 0|0 |
0|0HG03453 : 0|0 |
0|0HG03486 : 0|0 |
0|0HG03492 : 0|0 |
0|0HG03516 : 0|0 |
0|0HG03540 : 0|0 |
0|0HG03579 : 0|0 |
0|1NA18906 : 0|1 |
0|0NA20129 : 0|0 |
0|0NA21309 : 0|0 |
|
NAACMG_class : NA AnnotSV_ranking_score : . AnnotSV_ranking_criteria : . |
INSSV_type : INS SV_length : 325 Gene_count : 1 |
fullAnnotation_mode : full |
CPA4Gene_name : CPA4; LOEUF_bin : 7 GnomAD_pLI : 9.3852e-18 ExAC_pLI : 3.5491e-07 HI : . TS : . DDD_HI_percent : 54.59 ExAC_cnvZ : 0.775105511443875 ExAC_delZ : 0.378378492743593 ExAC_dupZ : 0.793191358899084 ExAC_synZ : 0.995709945832102 ExAC_misZ : -0.272154080342313 Closest_left : CPA2 Closest_right : LOC105375503 |
.Location : . CytoBand : q32.2 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_gain_phen : . po_P_gain_hpo : . po_P_gain_source : dbVar:nssv15777247; dbVar:nssv15168013; dbVar:nssv15161666; nssv15161679; dbVar:nssv15168014; dbVar:nssv15147343; dbVar:nssv15153681; dbVar:nssv16208848; dbVar:nssv15147531; dbVar:nssv15148872; dbVar:nssv15606038; dbVar:nssv15132342; dbVar:nssv15145666 po_P_gain_coord : 7:10366-159327017; 7:10705-159329842; 7:43362-159327017; 7:44936-159333620; 7:97419853-158923762; 7:99095766-159327017; 7:109611004-159327017; 7:115459016-159325817; 7:121863760-159335865; 7:128672397-159326530; 7:128747479-134018250; 7:129310167-159282390 po_P_gain_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00 po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15161318; dbVar:nssv15147406; dbVar:nssv15137807; dbVar:nssv17970251; dbVar:nssv17970254; dbVar:nssv15133245; dbVar:nssv17970255 po_P_loss_coord : 7:54186-159282390; 7:117326806-134790689; 7:124170658-134163594; 7:124327422-133045221; 7:124463929-135008839; 7:126859733-132750936; 7:127655645-139824559 po_P_loss_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_gain_allG_source : . po_B_gain_allG_coord : . po_B_gain_someG_source : . po_B_gain_someG_coord : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 7:130313059-130316655 Repeat_type_left : HERVFH19-int Gap_left : . GC_content_left : 0.420 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 7:130313059-130316655 Repeat_type_right : HERVFH19-int Gap_right : . GC_content_right : 0.415 |
CHM13Samples_ID : CHM13 |
>35619480>35619482ID : >35619480>35619482 |
AREF : A |
AGAGTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGAC[...]ALT : AGAGTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGAGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCCGGCCAGAAA |
60QUAL : 60 |
.FILTER : . |
AC=1; AF=0.011236; AN=89; AT=>35619480>[...]INFO : AC=1; AF=0.011236; AN=89; AT=>35619480>35619482,>35619480>35619481>35619482; LV=0; NS=45; e=130313579; s=325; rC=SINE/Alu |
GTFORMAT : GT |
1CHM13 : 1 |
0|0HG00438 : 0|0 |
0|0HG00621 : 0|0 |
0|0HG00673 : 0|0 |
0|0HG00733 : 0|0 |
0|0HG00735 : 0|0 |
0|0HG00741 : 0|0 |
0|0HG01071 : 0|0 |
0|0HG01106 : 0|0 |
0|0HG01109 : 0|0 |
0|0HG01123 : 0|0 |
0|0HG01175 : 0|0 |
0|0HG01243 : 0|0 |
0|0HG01258 : 0|0 |
0|0HG01358 : 0|0 |
0|0HG01361 : 0|0 |
0|0HG01891 : 0|0 |
0|0HG01928 : 0|0 |
0|0HG01952 : 0|0 |
0|0HG01978 : 0|0 |
0|0HG02055 : 0|0 |
0|0HG02080 : 0|0 |
0|0HG02109 : 0|0 |
0|0HG02145 : 0|0 |
0|0HG02148 : 0|0 |
0|0HG02257 : 0|0 |
0|0HG02486 : 0|0 |
0|0HG02559 : 0|0 |
0|0HG02572 : 0|0 |
0|0HG02622 : 0|0 |
0|0HG02630 : 0|0 |
0|0HG02717 : 0|0 |
0|0HG02723 : 0|0 |
0|0HG02818 : 0|0 |
0|0HG02886 : 0|0 |
0|0HG03098 : 0|0 |
0|0HG03453 : 0|0 |
0|0HG03486 : 0|0 |
0|0HG03492 : 0|0 |
0|0HG03516 : 0|0 |
0|0HG03540 : 0|0 |
0|0HG03579 : 0|0 |
0|0NA18906 : 0|0 |
0|0NA20129 : 0|0 |
0|0NA21309 : 0|0 |
|
full=NAACMG_class : full=NA |
INSSV_type : INS SV_length : 325 |
splitAnnotation_mode : split |
CPA4Gene_name : CPA4; LOEUF_bin : 7 GnomAD_pLI : 9.3852e-18 ExAC_pLI : 3.5491e-07 HI : 0 TS : 0 DDD_HI_percent : 54.59 ACMG : . ExAC_cnvZ : 0.775105511443875 ExAC_delZ : 0.378378492743593 ExAC_dupZ : 0.793191358899084 ExAC_synZ : 0.995709945832102 ExAC_misZ : -0.272154080342313 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 51200 |
intron9-intron9Location : intron9-intron9 CytoBand : q32.2 Location2 : CDS Tx : NM_001163446 Tx_version : 2 Tx_start : 130293160 Tx_end : 130324180 Exon_count : 10 Overlapped_tx_length : 1 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 1456 Nearest_SS_type : 5' Intersect_start : 130313578 Intersect_end : 130313579 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
CHM13Samples_ID : CHM13 |
>35619480>35619482ID : >35619480>35619482 |
AREF : A |
AGAGTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGAC[...]ALT : AGAGTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGAGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCCGGCCAGAAA |
60QUAL : 60 |
.FILTER : . |
AC=1; AF=0.011236; AN=89; AT=>35619480>[...]INFO : AC=1; AF=0.011236; AN=89; AT=>35619480>35619482,>35619480>35619481>35619482; LV=0; NS=45; e=130313579; s=325; rC=SINE/Alu |
GTFORMAT : GT |
1CHM13 : 1 |
0|0HG00438 : 0|0 |
0|0HG00621 : 0|0 |
0|0HG00673 : 0|0 |
0|0HG00733 : 0|0 |
0|0HG00735 : 0|0 |
0|0HG00741 : 0|0 |
0|0HG01071 : 0|0 |
0|0HG01106 : 0|0 |
0|0HG01109 : 0|0 |
0|0HG01123 : 0|0 |
0|0HG01175 : 0|0 |
0|0HG01243 : 0|0 |
0|0HG01258 : 0|0 |
0|0HG01358 : 0|0 |
0|0HG01361 : 0|0 |
0|0HG01891 : 0|0 |
0|0HG01928 : 0|0 |
0|0HG01952 : 0|0 |
0|0HG01978 : 0|0 |
0|0HG02055 : 0|0 |
0|0HG02080 : 0|0 |
0|0HG02109 : 0|0 |
0|0HG02145 : 0|0 |
0|0HG02148 : 0|0 |
0|0HG02257 : 0|0 |
0|0HG02486 : 0|0 |
0|0HG02559 : 0|0 |
0|0HG02572 : 0|0 |
0|0HG02622 : 0|0 |
0|0HG02630 : 0|0 |
0|0HG02717 : 0|0 |
0|0HG02723 : 0|0 |
0|0HG02818 : 0|0 |
0|0HG02886 : 0|0 |
0|0HG03098 : 0|0 |
0|0HG03453 : 0|0 |
0|0HG03486 : 0|0 |
0|0HG03492 : 0|0 |
0|0HG03516 : 0|0 |
0|0HG03540 : 0|0 |
0|0HG03579 : 0|0 |
0|0NA18906 : 0|0 |
0|0NA20129 : 0|0 |
0|0NA21309 : 0|0 |
|
NAACMG_class : NA AnnotSV_ranking_score : . AnnotSV_ranking_criteria : . |
INSSV_type : INS SV_length : 316 Gene_count : 1 |
fullAnnotation_mode : full |
BAZ1BGene_name : BAZ1B; LOEUF_bin : 0 GnomAD_pLI : 1.0000e+00 ExAC_pLI : 1.0000e+00 HI : . TS : . DDD_HI_percent : 23.74 ExAC_cnvZ : 0.395552906953086 ExAC_delZ : 1.02239565516008 ExAC_dupZ : 0.0159631069818757 ExAC_synZ : -0.902054979760057 ExAC_misZ : 4.05717005254254 Closest_left : FZD9 Closest_right : BCL7B |
.Location : . CytoBand : q11.23 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_gain_phen : 7q11.23 recurrent (Williams-Beuren syndrome) region (includes ELN) po_P_gain_hpo : . po_P_gain_source : dbVar:nssv15777247; dbVar:nssv15168013; dbVar:nssv15161666; nssv15161679; dbVar:nssv15168014; dbVar:nssv15146013; dbVar:nssv15146778; dbVar:nssv15147714; dbVar:nssv15147012; dbVar:nssv15147013; dbVar:nssv15755212; dbVar:nssv15147334; dbVar:nssv15146741; dbVar:nssv15154519; dbVar:nssv15151509; dbVar:nssv15152109; dbVar:nssv15153678; dbVar:nssv15148173; dbVar:nssv15149887; dbVar:nssv15147399; dbVar:nssv15148904; dbVar:nssv15174166; dbVar:nssv15128409; dbVar:nssv15150793; dbVar:nssv16254014; dbVar:nssv18830985; dbVar:nssv15149513; dbVar:nssv15151227; dbVar:nssv15126184; dbVar:nssv17976854; dbVar:nssv15150228; dbVar:nssv15147014; nssv15147017; dbVar:nssv15147458; dbVar:nssv15146773; dbVar:nssv15148877; dbVar:nssv15146395; dbVar:nssv15147556; dbVar:nssv15146449; dbVar:nssv15151508; dbVar:nssv15150733; dbVar:nssv15154518; dbVar:nssv17955880; dbVar:nssv18830970; dbVar:nssv15146933; dbVar:nssv16215249; dbVar:nssv15146396; dbVar:nssv15159763; dbVar:nssv15160831; dbVar:nssv15167739; TS3:ISCA-37392; dbVar:nssv15146450; dbVar:nssv15147327; dbVar:nssv17976654; dbVar:nssv15146175; nssv15148276; dbVar:nssv15148970 po_P_gain_coord : 7:10366-159327017; 7:10705-159329842; 7:43362-159327017; 7:44936-159333620; 7:62977086-75415352; 7:72179093-79164071; 7:72503228-74719013; 7:72649516-75361855; 7:72768822-74869255; 7:72893988-74365935; 7:72938065-74779028; 7:73040502-75255046; 7:73166841-74732825; 7:73166841-74761099; 7:73166841-74783503; 7:73166841-75274941; 7:73175476-74740268; 7:73175476-74751069; 7:73192370-74779057; 7:73192370-74883978; 7:73192411-74738864; 7:73235974-74774225; 7:73245642-74728902; 7:73245642-74750557; 7:73250430-74748249; 7:73263133-74728802; 7:73263261-74728902; 7:73271720-74775327; 7:73272915-74740732; 7:73278090-74740162; 7:73280575-74725240; 7:73280575-74727989; 7:73280575-74728722; 7:73280575-74779057; 7:73280575-74839100; 7:73286126-74732517; 7:73286413-74725240; 7:73286523-74655531; 7:73286523-74727918; 7:73287017-74728902; 7:73303349-74718991; 7:73304281-74727918; 7:73304282-74726374; 7:73308985-74727502; 7:73312576-74723034; 7:73312645-74726596; 7:73323104-74726596; 7:73329981-74730726; 7:73330453-74728172; 7:73352105-74719154; 7:73352304-74719008; 7:73352305-74628471; 7:73352305-74719013; 7:73352305-75065728 po_P_gain_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00 po_P_loss_phen : 7q11.23 recurrent (Williams-Beuren syndrome) region (includes ELN) po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15161318; dbVar:nssv15148211; dbVar:nssv15147057; dbVar:nssv15147200; dbVar:nssv16255682; dbVar:nssv15146320; dbVar:nssv15146676; dbVar:nssv16867365; dbVar:nssv15167734; dbVar:nssv15146211; dbVar:nssv16254015; dbVar:nssv15151112; dbVar:nssv15145801; dbVar:nssv15152099; dbVar:nssv17977008; dbVar:nssv15151511; dbVar:nssv17977009; dbVar:nssv15145887; dbVar:nssv15147427; dbVar:nssv15153677; dbVar:nssv15154521; dbVar:nssv16208139; dbVar:nssv18830917; dbVar:nssv15151289; nssv18792672; dbVar:nssv18330757; dbVar:nssv15125131; dbVar:nssv17977011; dbVar:nssv15167735; dbVar:nssv15167736; dbVar:nssv15168977; dbVar:nssv18330770; dbVar:nssv16215159; dbVar:nssv15129678; dbVar:nssv15606134; dbVar:nssv15145898; dbVar:nssv15151092; dbVar:nssv15147158; dbVar:nssv15148192; dbVar:nssv15148206; dbVar:nssv15145827; dbVar:nssv15755220; dbVar:nssv17977017; dbVar:nssv15147160; dbVar:nssv15147159; dbVar:nssv15145802; dbVar:nssv15147457; dbVar:nssv15148226; dbVar:nssv15147515; dbVar:nssv15147502; dbVar:nssv15148195; dbVar:nssv15147550; dbVar:nssv17977015; dbVar:nssv15605840; dbVar:nssv17977014; dbVar:nssv15149859; dbVar:nssv17977016; dbVar:nssv15150016; dbVar:nssv15146951; dbVar:nssv16297072; dbVar:nssv18830737; dbVar:nssv15154517; nssv17977012; dbVar:nssv17977007; dbVar:nssv15146637; dbVar:nssv15149107; dbVar:nssv18831000; dbVar:nssv15150231; dbVar:nssv15150699; dbVar:nssv15150637; dbVar:nssv15151346; dbVar:nssv15148257; nssv17977121; dbVar:nssv15150643; dbVar:nssv15149860; dbVar:nssv15151090; dbVar:nssv18329614; dbVar:nssv18330419; dbVar:nssv18330223; dbVar:nssv15167737; dbVar:nssv15605774; dbVar:nssv8640006; dbVar:nssv15167738; dbVar:nssv15147726; dbVar:nssv15146708; dbVar:nssv15755221; HI3:ISCA-37392; dbVar:nssv15605838; dbVar:nssv15605839; dbVar:nssv15146451; dbVar:nssv15146687; dbVar:nssv15147324; dbVar:nssv15147329; dbVar:nssv15145649; nssv15146804; nssv15153080; dbVar:nssv15145670; dbVar:nssv15145679; nssv15146800; dbVar:nssv15146612; dbVar:nssv15151951; nssv15605841 po_P_loss_coord : 7:54186-159282390; 7:62736365-75432710; 7:68668308-73710276; 7:69382354-77823832; 7:69512245-74525180; 7:71225345-81735657; 7:71461128-73614730; 7:72382984-73976980; 7:72835093-74782015; 7:72930549-74869255; 7:72932580-77080283; 7:72986075-76378063; 7:73096543-74727989; 7:73122657-75175451; 7:73175156-74809477; 7:73175476-74972599; 7:73175476-75175451; 7:73192370-74779057; 7:73192370-74869255; 7:73194475-74972599; 7:73198003-75158835; 7:73207683-76378063; 7:73214502-74773500; 7:73229598-74727852; 7:73229599-74728722; 7:73230598-74730084; 7:73230980-74727852; 7:73236073-74724270; 7:73236232-74724270; 7:73239274-74720592; 7:73240750-74727852; 7:73243196-74745961; 7:73263197-74730084; 7:73268295-74726912; 7:73271691-74727989; 7:73277219-74727852; 7:73280575-74723034; 7:73280575-74727918; 7:73280575-74789341; 7:73280575-74924007; 7:73285381-74727991; 7:73286126-74727852; 7:73286413-74707848; 7:73286413-74723034; 7:73286413-74725240; 7:73286413-74727989; 7:73286413-74758583; 7:73286413-74779057; 7:73286413-74869255; 7:73286509-74727852; 7:73286523-74727156; 7:73286941-74727852; 7:73286995-74727852; 7:73286995-74727918; 7:73287017-74727155; 7:73287083-74727852; 7:73294238-74718954; 7:73294238-74924037; 7:73303373-74727886; 7:73303399-74758838; 7:73304127-74727446; 7:73304127-74727852; 7:73304256-74718954; 7:73304256-74719013; 7:73304278-74727414; 7:73304281-74484185; 7:73304281-74727156; 7:73304281-74727265; 7:73304281-74727408; 7:73304281-74727852; 7:73304281-74732517; 7:73304281-74839100; 7:73304281-74871338; 7:73304282-74727918; 7:73304282-74728722; 7:73304282-74728902; 7:73305390-74804195; 7:73307453-74544776; 7:73308985-74727502; 7:73308985-74785746; 7:73308985-74803049; 7:73312583-74725057; 7:73312595-74727991; 7:73330453-74728172; 7:73330492-74924037; 7:73330492-76409501; 7:73352105-74719154; 7:73352304-74719008; 7:73352304-74779051; 7:73352304-74924023; 7:73352305-74719013; 7:73352305-74869255; 7:73352305-74924037; 7:73352305-76722261; 7:73358514-74719000 po_P_loss_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00 |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_gain_source : dbVar B_gain_coord : chr7:73294999-74643669 B_gain_AFmax : 0.01 B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_gain_allG_source : . po_B_gain_allG_coord : . po_B_gain_someG_source : . po_B_gain_someG_coord : chr7:73294999-74643669 dbVar po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : . Repeat_type_left : . Gap_left : . GC_content_left : 0.375 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : . Repeat_type_right : . Gap_right : . GC_content_right : 0.375 |
CHM13,HG01243Samples_ID : CHM13,HG01243 |
>32666377>32666379ID : >32666377>32666379 |
AREF : A |
AGGTACATTTTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAG[...]ALT : AGGTACATTTTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCC |
60QUAL : 60 |
.FILTER : . |
AC=1; AF=0.011236; AN=89; AT=>32666377>[...]INFO : AC=1; AF=0.011236; AN=89; AT=>32666377>32666379,>32666377>32666378>32666379; LV=0; NS=45; e=73479096; s=316; rC=SINE/Alu |
GTFORMAT : GT |
0CHM13 : 0 |
0|0HG00438 : 0|0 |
0|0HG00621 : 0|0 |
0|0HG00673 : 0|0 |
0|0HG00733 : 0|0 |
0|0HG00735 : 0|0 |
0|0HG00741 : 0|0 |
0|0HG01071 : 0|0 |
0|0HG01106 : 0|0 |
0|0HG01109 : 0|0 |
0|0HG01123 : 0|0 |
0|0HG01175 : 0|0 |
1|0HG01243 : 1|0 |
0|0HG01258 : 0|0 |
0|0HG01358 : 0|0 |
0|0HG01361 : 0|0 |
0|0HG01891 : 0|0 |
0|0HG01928 : 0|0 |
0|0HG01952 : 0|0 |
0|0HG01978 : 0|0 |
0|0HG02055 : 0|0 |
0|0HG02080 : 0|0 |
0|0HG02109 : 0|0 |
0|0HG02145 : 0|0 |
0|0HG02148 : 0|0 |
0|0HG02257 : 0|0 |
0|0HG02486 : 0|0 |
0|0HG02559 : 0|0 |
0|0HG02572 : 0|0 |
0|0HG02622 : 0|0 |
0|0HG02630 : 0|0 |
0|0HG02717 : 0|0 |
0|0HG02723 : 0|0 |
0|0HG02818 : 0|0 |
0|0HG02886 : 0|0 |
0|0HG03098 : 0|0 |
0|0HG03453 : 0|0 |
0|0HG03486 : 0|0 |
0|0HG03492 : 0|0 |
0|0HG03516 : 0|0 |
0|0HG03540 : 0|0 |
0|0HG03579 : 0|0 |
0|0NA18906 : 0|0 |
0|0NA20129 : 0|0 |
0|0NA21309 : 0|0 |
|
full=NAACMG_class : full=NA |
INSSV_type : INS SV_length : 316 |
splitAnnotation_mode : split |
BAZ1BGene_name : BAZ1B; LOEUF_bin : 0 GnomAD_pLI : 1.0000e+00 ExAC_pLI : 1.0000e+00 HI : . TS : . DDD_HI_percent : 23.74 ACMG : . ExAC_cnvZ : 0.395552906953086 ExAC_delZ : 1.02239565516008 ExAC_dupZ : 0.0159631069818757 ExAC_synZ : -0.902054979760057 ExAC_misZ : 4.05717005254254 GenCC_disease : autism spectrum disorder GenCC_moi : AD GenCC_classification : Limited GenCC_pmid : . NCBI_gene_ID : 9031 |
intron6-intron6Location : intron6-intron6 CytoBand : q11.23 Location2 : CDS Tx : NM_001370402 Tx_version : 1 Tx_start : 73440405 Tx_end : 73522293 Exon_count : 19 Overlapped_tx_length : 1 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 526 Nearest_SS_type : 3' Intersect_start : 73479095 Intersect_end : 73479096 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_gain_source : dbVar B_gain_coord : chr7:73294999-74643669 B_gain_AFmax : 0.01 B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
CHM13,HG01243Samples_ID : CHM13,HG01243 |
>32666377>32666379ID : >32666377>32666379 |
AREF : A |
AGGTACATTTTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAG[...]ALT : AGGTACATTTTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCC |
60QUAL : 60 |
.FILTER : . |
AC=1; AF=0.011236; AN=89; AT=>32666377>[...]INFO : AC=1; AF=0.011236; AN=89; AT=>32666377>32666379,>32666377>32666378>32666379; LV=0; NS=45; e=73479096; s=316; rC=SINE/Alu |
GTFORMAT : GT |
0CHM13 : 0 |
0|0HG00438 : 0|0 |
0|0HG00621 : 0|0 |
0|0HG00673 : 0|0 |
0|0HG00733 : 0|0 |
0|0HG00735 : 0|0 |
0|0HG00741 : 0|0 |
0|0HG01071 : 0|0 |
0|0HG01106 : 0|0 |
0|0HG01109 : 0|0 |
0|0HG01123 : 0|0 |
0|0HG01175 : 0|0 |
1|0HG01243 : 1|0 |
0|0HG01258 : 0|0 |
0|0HG01358 : 0|0 |
0|0HG01361 : 0|0 |
0|0HG01891 : 0|0 |
0|0HG01928 : 0|0 |
0|0HG01952 : 0|0 |
0|0HG01978 : 0|0 |
0|0HG02055 : 0|0 |
0|0HG02080 : 0|0 |
0|0HG02109 : 0|0 |
0|0HG02145 : 0|0 |
0|0HG02148 : 0|0 |
0|0HG02257 : 0|0 |
0|0HG02486 : 0|0 |
0|0HG02559 : 0|0 |
0|0HG02572 : 0|0 |
0|0HG02622 : 0|0 |
0|0HG02630 : 0|0 |
0|0HG02717 : 0|0 |
0|0HG02723 : 0|0 |
0|0HG02818 : 0|0 |
0|0HG02886 : 0|0 |
0|0HG03098 : 0|0 |
0|0HG03453 : 0|0 |
0|0HG03486 : 0|0 |
0|0HG03492 : 0|0 |
0|0HG03516 : 0|0 |
0|0HG03540 : 0|0 |
0|0HG03579 : 0|0 |
0|0NA18906 : 0|0 |
0|0NA20129 : 0|0 |
0|0NA21309 : 0|0 |
|
NAACMG_class : NA AnnotSV_ranking_score : . AnnotSV_ranking_criteria : . |
INSSV_type : INS SV_length : 308 Gene_count : 1 |
fullAnnotation_mode : full |
HECW1Gene_name : HECW1; LOEUF_bin : 0 GnomAD_pLI : 9.9982e-01 ExAC_pLI : 1.0000e+00 HI : . TS : . DDD_HI_percent : 28.13 ExAC_cnvZ : 0.846649046559589 ExAC_delZ : 0.712733078829324 ExAC_dupZ : 0.740519442961211 ExAC_synZ : 1.51904491520179 ExAC_misZ : 3.54927909948242 Closest_left : MIR3943 Closest_right : LOC124901619 |
.Location : . CytoBand : p14.1 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
BLVRA (morbid/RE=EA_enhancer); RE_gene : BLVRA (morbid/RE=EA_enhancer); |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_gain_phen : . po_P_gain_hpo : . po_P_gain_source : dbVar:nssv15777247; dbVar:nssv15168013; dbVar:nssv15161666; nssv15161679; dbVar:nssv15168014; dbVar:nssv15161869; dbVar:nssv15154527; dbVar:nssv15146465; dbVar:nssv15121953 po_P_gain_coord : 7:10366-159327017; 7:10705-159329842; 7:43362-159327017; 7:44936-159333620; 7:11009214-52795933; 7:30424271-43431206; 7:33328313-62377476; 7:42388725-43606751 po_P_gain_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00 po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15161318; dbVar:nssv15148432; dbVar:nssv15145850; dbVar:nssv15148950; dbVar:nssv15147366; dbVar:nssv15121207; dbVar:nssv15135101; dbVar:nssv15140604; dbVar:nssv15146688; dbVar:nssv17970216; dbVar:nssv16867386 po_P_loss_coord : 7:54186-159282390; 7:32871392-44536406; 7:37303479-48660738; 7:38178000-45304100; 7:39063401-45363096; 7:39814160-45749735; 7:40020599-50543500; 7:40310785-46994824; 7:40534158-56107122; 7:40738841-50189060; 7:41084767-47905969 po_P_loss_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . B_loss_source : dbVar B_loss_coord : chr7:43185909-43196444 B_loss_AFmax : 0.01 po_B_gain_allG_source : . po_B_gain_allG_coord : . po_B_gain_someG_source : . po_B_gain_someG_coord : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : chr7:43185909-43196444 dbVar |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 7:43194422-43194482 Repeat_type_left : U7 Gap_left : . GC_content_left : 0.335 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 7:43194422-43194482 Repeat_type_right : U7 Gap_right : . GC_content_right : 0.335 |
CHM13,NA21309Samples_ID : CHM13,NA21309 |
>34771684>34771686ID : >34771684>34771686 |
GREF : G |
GGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGA[...]ALT : GGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAAGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAATCTGGG |
60QUAL : 60 |
.FILTER : . |
AC=1; AF=0.011236; AN=89; AT=>34771684>[...]INFO : AC=1; AF=0.011236; AN=89; AT=>34771684>34771686,>34771684<34771685>34771686; LV=0; NS=45; e=43194366; s=308; rC=SINE/Alu |
GTFORMAT : GT |
0CHM13 : 0 |
0|0HG00438 : 0|0 |
0|0HG00621 : 0|0 |
0|0HG00673 : 0|0 |
0|0HG00733 : 0|0 |
0|0HG00735 : 0|0 |
0|0HG00741 : 0|0 |
0|0HG01071 : 0|0 |
0|0HG01106 : 0|0 |
0|0HG01109 : 0|0 |
0|0HG01123 : 0|0 |
0|0HG01175 : 0|0 |
0|0HG01243 : 0|0 |
0|0HG01258 : 0|0 |
0|0HG01358 : 0|0 |
0|0HG01361 : 0|0 |
0|0HG01891 : 0|0 |
0|0HG01928 : 0|0 |
0|0HG01952 : 0|0 |
0|0HG01978 : 0|0 |
0|0HG02055 : 0|0 |
0|0HG02080 : 0|0 |
0|0HG02109 : 0|0 |
0|0HG02145 : 0|0 |
0|0HG02148 : 0|0 |
0|0HG02257 : 0|0 |
0|0HG02486 : 0|0 |
0|0HG02559 : 0|0 |
0|0HG02572 : 0|0 |
0|0HG02622 : 0|0 |
0|0HG02630 : 0|0 |
0|0HG02717 : 0|0 |
0|0HG02723 : 0|0 |
0|0HG02818 : 0|0 |
0|0HG02886 : 0|0 |
0|0HG03098 : 0|0 |
0|0HG03453 : 0|0 |
0|0HG03486 : 0|0 |
0|0HG03492 : 0|0 |
0|0HG03516 : 0|0 |
0|0HG03540 : 0|0 |
0|0HG03579 : 0|0 |
0|0NA18906 : 0|0 |
0|0NA20129 : 0|0 |
0|1NA21309 : 0|1 |
|
full=NAACMG_class : full=NA |
INSSV_type : INS SV_length : 308 |
splitAnnotation_mode : split |
HECW1Gene_name : HECW1; LOEUF_bin : 0 GnomAD_pLI : 9.9982e-01 ExAC_pLI : 1.0000e+00 HI : . TS : . DDD_HI_percent : 28.13 ACMG : . ExAC_cnvZ : 0.846649046559589 ExAC_delZ : 0.712733078829324 ExAC_dupZ : 0.740519442961211 ExAC_synZ : 1.51904491520179 ExAC_misZ : 3.54927909948242 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 23072 |
intron1-intron1Location : intron1-intron1 CytoBand : p14.1 Location2 : 5'UTR Tx : NM_001287059 Tx_version : 2 Tx_start : 43112646 Tx_end : 43566001 Exon_count : 28 Overlapped_tx_length : 1 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 49508 Nearest_SS_type : 3' Intersect_start : 43194365 Intersect_end : 43194366 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . B_loss_source : dbVar B_loss_coord : chr7:43185909-43196444 B_loss_AFmax : 0.01 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
CHM13,NA21309Samples_ID : CHM13,NA21309 |
>34771684>34771686ID : >34771684>34771686 |
GREF : G |
GGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGA[...]ALT : GGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAAGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAATCTGGG |
60QUAL : 60 |
.FILTER : . |
AC=1; AF=0.011236; AN=89; AT=>34771684>[...]INFO : AC=1; AF=0.011236; AN=89; AT=>34771684>34771686,>34771684<34771685>34771686; LV=0; NS=45; e=43194366; s=308; rC=SINE/Alu |
GTFORMAT : GT |
0CHM13 : 0 |
0|0HG00438 : 0|0 |
0|0HG00621 : 0|0 |
0|0HG00673 : 0|0 |
0|0HG00733 : 0|0 |
0|0HG00735 : 0|0 |
0|0HG00741 : 0|0 |
0|0HG01071 : 0|0 |
0|0HG01106 : 0|0 |
0|0HG01109 : 0|0 |
0|0HG01123 : 0|0 |
0|0HG01175 : 0|0 |
0|0HG01243 : 0|0 |
0|0HG01258 : 0|0 |
0|0HG01358 : 0|0 |
0|0HG01361 : 0|0 |
0|0HG01891 : 0|0 |
0|0HG01928 : 0|0 |
0|0HG01952 : 0|0 |
0|0HG01978 : 0|0 |
0|0HG02055 : 0|0 |
0|0HG02080 : 0|0 |
0|0HG02109 : 0|0 |
0|0HG02145 : 0|0 |
0|0HG02148 : 0|0 |
0|0HG02257 : 0|0 |
0|0HG02486 : 0|0 |
0|0HG02559 : 0|0 |
0|0HG02572 : 0|0 |
0|0HG02622 : 0|0 |
0|0HG02630 : 0|0 |
0|0HG02717 : 0|0 |
0|0HG02723 : 0|0 |
0|0HG02818 : 0|0 |
0|0HG02886 : 0|0 |
0|0HG03098 : 0|0 |
0|0HG03453 : 0|0 |
0|0HG03486 : 0|0 |
0|0HG03492 : 0|0 |
0|0HG03516 : 0|0 |
0|0HG03540 : 0|0 |
0|0HG03579 : 0|0 |
0|0NA18906 : 0|0 |
0|0NA20129 : 0|0 |
0|1NA21309 : 0|1 |
|
NAACMG_class : NA AnnotSV_ranking_score : . AnnotSV_ranking_criteria : . |
INSSV_type : INS SV_length : 200 Gene_count : 1 |
fullAnnotation_mode : full |
.Location : . CytoBand : p14.1 |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_gain_phen : . po_P_gain_hpo : . po_P_gain_source : dbVar:nssv15777247; dbVar:nssv15168013; dbVar:nssv15161666; nssv15161679; dbVar:nssv15168014; dbVar:nssv15161726; dbVar:nssv15161869; dbVar:nssv15154527; dbVar:nssv15146465 po_P_gain_coord : 7:10366-159327017; 7:10705-159329842; 7:43362-159327017; 7:44936-159333620; 7:54186-41875885; 7:11009214-52795933; 7:30424271-43431206; 7:33328313-62377476 po_P_gain_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00 po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15161318; dbVar:nssv15147510; dbVar:nssv15148432; dbVar:nssv15147453; dbVar:nssv15145850; dbVar:nssv15148950; dbVar:nssv15147366; dbVar:nssv18787104; dbVar:nssv15121207; dbVar:nssv15135101; dbVar:nssv15140604; dbVar:nssv15146688 po_P_loss_coord : 7:54186-159282390; 7:32678392-41044983; 7:32871392-44536406; 7:35460777-42013800; 7:37303479-48660738; 7:38178000-45304100; 7:39063401-45363096; 7:39686669-42223253; 7:39814160-45749735; 7:40020599-50543500; 7:40310785-46994824; 7:40534158-56107122 po_P_loss_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_gain_allG_source : . po_B_gain_allG_coord : . po_B_gain_someG_source : . po_B_gain_someG_coord : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 7:40665157-40665432 Repeat_type_left : AluSq2 Gap_left : . GC_content_left : 0.535 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 7:40665157-40665432 Repeat_type_right : AluSq2 Gap_right : . GC_content_right : 0.540 |
CHM13,HG03540Samples_ID : CHM13,HG03540 |
>34712688>34712690ID : >34712688>34712690 |
AREF : A |
AATTAGCCGGGCGCGGTGGCGGGTGCCTGTAGTCCCAGCTACTCG[...]ALT : AATTAGCCGGGCGCGGTGGCGGGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA |
60QUAL : 60 |
.FILTER : . |
AC=1; AF=0.011236; AN=89; AT=>34712688>[...]INFO : AC=1; AF=0.011236; AN=89; AT=>34712688>34712690,>34712688>34712689>34712690; LV=0; NS=45; e=40665289; s=200; rC=SINE/Alu |
GTFORMAT : GT |
0CHM13 : 0 |
0|0HG00438 : 0|0 |
0|0HG00621 : 0|0 |
0|0HG00673 : 0|0 |
0|0HG00733 : 0|0 |
0|0HG00735 : 0|0 |
0|0HG00741 : 0|0 |
0|0HG01071 : 0|0 |
0|0HG01106 : 0|0 |
0|0HG01109 : 0|0 |
0|0HG01123 : 0|0 |
0|0HG01175 : 0|0 |
0|0HG01243 : 0|0 |
0|0HG01258 : 0|0 |
0|0HG01358 : 0|0 |
0|0HG01361 : 0|0 |
0|0HG01891 : 0|0 |
0|0HG01928 : 0|0 |
0|0HG01952 : 0|0 |
0|0HG01978 : 0|0 |
0|0HG02055 : 0|0 |
0|0HG02080 : 0|0 |
0|0HG02109 : 0|0 |
0|0HG02145 : 0|0 |
0|0HG02148 : 0|0 |
0|0HG02257 : 0|0 |
0|0HG02486 : 0|0 |
0|0HG02559 : 0|0 |
0|0HG02572 : 0|0 |
0|0HG02622 : 0|0 |
0|0HG02630 : 0|0 |
0|0HG02717 : 0|0 |
0|0HG02723 : 0|0 |
0|0HG02818 : 0|0 |
0|0HG02886 : 0|0 |
0|0HG03098 : 0|0 |
0|0HG03453 : 0|0 |
0|0HG03486 : 0|0 |
0|0HG03492 : 0|0 |
0|0HG03516 : 0|0 |
1|0HG03540 : 1|0 |
0|0HG03579 : 0|0 |
0|0NA18906 : 0|0 |
0|0NA20129 : 0|0 |
0|0NA21309 : 0|0 |
|||
full=NAACMG_class : full=NA |
INSSV_type : INS SV_length : 200 |
splitAnnotation_mode : split |
SUGCTGene_name : SUGCT; LOEUF_bin : 5 GnomAD_pLI : 2.8168e-09 ExAC_pLI : 2.0306e-09 HI : . TS : . DDD_HI_percent : 7.16 ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : glutaric acidemia type 3 GenCC_moi : AR GenCC_classification : Moderate; Strong; Supportive GenCC_pmid : 18926513; 18926513[PMID]; 23893049 NCBI_gene_ID : 79783 |
intron12-intron12Location : intron12-intron12 CytoBand : p14.1 Location2 : CDS Tx : NM_001193311 Tx_version : 2 Tx_start : 40135004 Tx_end : 40860763 Exon_count : 15 Overlapped_tx_length : 1 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 18766 Nearest_SS_type : 3' Intersect_start : 40665288 Intersect_end : 40665289 |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
CHM13,HG03540Samples_ID : CHM13,HG03540 |
>34712688>34712690ID : >34712688>34712690 |
AREF : A |
AATTAGCCGGGCGCGGTGGCGGGTGCCTGTAGTCCCAGCTACTCG[...]ALT : AATTAGCCGGGCGCGGTGGCGGGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA |
60QUAL : 60 |
.FILTER : . |
AC=1; AF=0.011236; AN=89; AT=>34712688>[...]INFO : AC=1; AF=0.011236; AN=89; AT=>34712688>34712690,>34712688>34712689>34712690; LV=0; NS=45; e=40665289; s=200; rC=SINE/Alu |
GTFORMAT : GT |
0CHM13 : 0 |
0|0HG00438 : 0|0 |
0|0HG00621 : 0|0 |
0|0HG00673 : 0|0 |
0|0HG00733 : 0|0 |
0|0HG00735 : 0|0 |
0|0HG00741 : 0|0 |
0|0HG01071 : 0|0 |
0|0HG01106 : 0|0 |
0|0HG01109 : 0|0 |
0|0HG01123 : 0|0 |
0|0HG01175 : 0|0 |
0|0HG01243 : 0|0 |
0|0HG01258 : 0|0 |
0|0HG01358 : 0|0 |
0|0HG01361 : 0|0 |
0|0HG01891 : 0|0 |
0|0HG01928 : 0|0 |
0|0HG01952 : 0|0 |
0|0HG01978 : 0|0 |
0|0HG02055 : 0|0 |
0|0HG02080 : 0|0 |
0|0HG02109 : 0|0 |
0|0HG02145 : 0|0 |
0|0HG02148 : 0|0 |
0|0HG02257 : 0|0 |
0|0HG02486 : 0|0 |
0|0HG02559 : 0|0 |
0|0HG02572 : 0|0 |
0|0HG02622 : 0|0 |
0|0HG02630 : 0|0 |
0|0HG02717 : 0|0 |
0|0HG02723 : 0|0 |
0|0HG02818 : 0|0 |
0|0HG02886 : 0|0 |
0|0HG03098 : 0|0 |
0|0HG03453 : 0|0 |
0|0HG03486 : 0|0 |
0|0HG03492 : 0|0 |
0|0HG03516 : 0|0 |
1|0HG03540 : 1|0 |
0|0HG03579 : 0|0 |
0|0NA18906 : 0|0 |
0|0NA20129 : 0|0 |
0|0NA21309 : 0|0 |
||
NAACMG_class : NA AnnotSV_ranking_score : . AnnotSV_ranking_criteria : . |
INSSV_type : INS SV_length : 363 Gene_count : 1 |
fullAnnotation_mode : full |
LOC107986777Gene_name : LOC107986777; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . Closest_left : LOC105375188 Closest_right : LOC124901831 |
.Location : . CytoBand : p15.3 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_gain_phen : . po_P_gain_hpo : . po_P_gain_source : dbVar:nssv15777247; dbVar:nssv15168013; dbVar:nssv15161812; dbVar:nssv15161666; nssv15161679; dbVar:nssv15168014; dbVar:nssv15161332; dbVar:nssv15161072; dbVar:nssv15161745; dbVar:nssv15161726; dbVar:nssv15161658; dbVar:nssv15161367; dbVar:nssv15161541; dbVar:nssv17970196; dbVar:nssv15161869; dbVar:nssv15161632; dbVar:nssv15161289 po_P_gain_coord : 7:10366-159327017; 7:10705-159329842; 7:43361-27196404; 7:43362-159327017; 7:44936-159333620; 7:45131-25221165; 7:54186-26827634; 7:54186-37089712; 7:54186-41875885; 7:664937-29218330; 7:1698125-27207295; 7:5682210-27230311; 7:10706124-35265556; 7:11009214-52795933; 7:11522998-36355807; 7:16234213-26167278 po_P_gain_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00 po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15161318; dbVar:nssv15161572; dbVar:nssv15161789; dbVar:nssv15121556; dbVar:nssv15136221; dbVar:nssv15124262; dbVar:nssv15754921; dbVar:nssv15134747; dbVar:nssv16208120 po_P_loss_coord : 7:54186-159282390; 7:10610070-25760560; 7:15533813-24851432; 7:20210913-27849400; 7:20561457-32005143; 7:22895751-32582363; 7:23197164-30650837; 7:23765384-26136158; 7:23837517-33099834 po_P_loss_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00 |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_gain_source : dbVar B_gain_coord : chr7:23911230-24410513 B_gain_AFmax : 0.01 B_loss_source : gnomAD-SV_v3_DEL_chr7_1b2f632f B_loss_coord : chr7:23621276-24677015 B_loss_AFmax : 0.0230 po_B_gain_allG_source : . po_B_gain_allG_coord : . po_B_gain_someG_source : . po_B_gain_someG_coord : chr7:23911230-24410513 dbVar po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : chr7:23621276-24677015 gnomAD-SV_v3_DEL_chr7_1b2f632f |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : . Repeat_type_left : . Gap_left : . GC_content_left : 0.330 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : . Repeat_type_right : . Gap_right : . GC_content_right : 0.335 |
CHM13Samples_ID : CHM13 |
>34310210>34310212ID : >34310210>34310212 |
TREF : T |
TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[...]ALT : TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGACAATGGGTACTTTCT |
60QUAL : 60 |
.FILTER : . |
AC=1; AF=0.011236; AN=89; AT=>34310210>[...]INFO : AC=1; AF=0.011236; AN=89; AT=>34310210>34310212,>34310210>34310211>34310212; LV=0; NS=45; e=24241092; s=363; rC=SINE/Alu |
GTFORMAT : GT |
1CHM13 : 1 |
0|0HG00438 : 0|0 |
0|0HG00621 : 0|0 |
0|0HG00673 : 0|0 |
0|0HG00733 : 0|0 |
0|0HG00735 : 0|0 |
0|0HG00741 : 0|0 |
0|0HG01071 : 0|0 |
0|0HG01106 : 0|0 |
0|0HG01109 : 0|0 |
0|0HG01123 : 0|0 |
0|0HG01175 : 0|0 |
0|0HG01243 : 0|0 |
0|0HG01258 : 0|0 |
0|0HG01358 : 0|0 |
0|0HG01361 : 0|0 |
0|0HG01891 : 0|0 |
0|0HG01928 : 0|0 |
0|0HG01952 : 0|0 |
0|0HG01978 : 0|0 |
0|0HG02055 : 0|0 |
0|0HG02080 : 0|0 |
0|0HG02109 : 0|0 |
0|0HG02145 : 0|0 |
0|0HG02148 : 0|0 |
0|0HG02257 : 0|0 |
0|0HG02486 : 0|0 |
0|0HG02559 : 0|0 |
0|0HG02572 : 0|0 |
0|0HG02622 : 0|0 |
0|0HG02630 : 0|0 |
0|0HG02717 : 0|0 |
0|0HG02723 : 0|0 |
0|0HG02818 : 0|0 |
0|0HG02886 : 0|0 |
0|0HG03098 : 0|0 |
0|0HG03453 : 0|0 |
0|0HG03486 : 0|0 |
0|0HG03492 : 0|0 |
0|0HG03516 : 0|0 |
0|0HG03540 : 0|0 |
0|0HG03579 : 0|0 |
0|0NA18906 : 0|0 |
0|0NA20129 : 0|0 |
0|0NA21309 : 0|0 |
|
full=NAACMG_class : full=NA |
INSSV_type : INS SV_length : 363 |
splitAnnotation_mode : split |
LOC107986777Gene_name : LOC107986777; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
intron2-intron2Location : intron2-intron2 CytoBand : p15.3 Location2 : UTR Tx : XR_001745132 Tx_version : 2 Tx_start : 24141281 Tx_end : 24445138 Exon_count : 4 Overlapped_tx_length : 1 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 44062 Nearest_SS_type : 3' Intersect_start : 24241091 Intersect_end : 24241092 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_gain_source : dbVar B_gain_coord : chr7:23911230-24410513 B_gain_AFmax : 0.01 B_loss_source : gnomAD-SV_v3_DEL_chr7_1b2f632f B_loss_coord : chr7:23621276-24677015 B_loss_AFmax : 0.0230 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
CHM13Samples_ID : CHM13 |
>34310210>34310212ID : >34310210>34310212 |
TREF : T |
TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[...]ALT : TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGACAATGGGTACTTTCT |
60QUAL : 60 |
.FILTER : . |
AC=1; AF=0.011236; AN=89; AT=>34310210>[...]INFO : AC=1; AF=0.011236; AN=89; AT=>34310210>34310212,>34310210>34310211>34310212; LV=0; NS=45; e=24241092; s=363; rC=SINE/Alu |
GTFORMAT : GT |
1CHM13 : 1 |
0|0HG00438 : 0|0 |
0|0HG00621 : 0|0 |
0|0HG00673 : 0|0 |
0|0HG00733 : 0|0 |
0|0HG00735 : 0|0 |
0|0HG00741 : 0|0 |
0|0HG01071 : 0|0 |
0|0HG01106 : 0|0 |
0|0HG01109 : 0|0 |
0|0HG01123 : 0|0 |
0|0HG01175 : 0|0 |
0|0HG01243 : 0|0 |
0|0HG01258 : 0|0 |
0|0HG01358 : 0|0 |
0|0HG01361 : 0|0 |
0|0HG01891 : 0|0 |
0|0HG01928 : 0|0 |
0|0HG01952 : 0|0 |
0|0HG01978 : 0|0 |
0|0HG02055 : 0|0 |
0|0HG02080 : 0|0 |
0|0HG02109 : 0|0 |
0|0HG02145 : 0|0 |
0|0HG02148 : 0|0 |
0|0HG02257 : 0|0 |
0|0HG02486 : 0|0 |
0|0HG02559 : 0|0 |
0|0HG02572 : 0|0 |
0|0HG02622 : 0|0 |
0|0HG02630 : 0|0 |
0|0HG02717 : 0|0 |
0|0HG02723 : 0|0 |
0|0HG02818 : 0|0 |
0|0HG02886 : 0|0 |
0|0HG03098 : 0|0 |
0|0HG03453 : 0|0 |
0|0HG03486 : 0|0 |
0|0HG03492 : 0|0 |
0|0HG03516 : 0|0 |
0|0HG03540 : 0|0 |
0|0HG03579 : 0|0 |
0|0NA18906 : 0|0 |
0|0NA20129 : 0|0 |
0|0NA21309 : 0|0 |
|
NAACMG_class : NA AnnotSV_ranking_score : . AnnotSV_ranking_criteria : . |
INSSV_type : INS SV_length : 136 Gene_count : 1 |
fullAnnotation_mode : full |
GINM1Gene_name : GINM1; LOEUF_bin : 7 GnomAD_pLI : 5.0270e-09 ExAC_pLI : 7.7068e-05 HI : . TS : . DDD_HI_percent : 60.16 ExAC_cnvZ : -2.47162789907313 ExAC_delZ : -0.410017654437726 ExAC_dupZ : -2.53125239294469 ExAC_synZ : 0.494170642428615 ExAC_misZ : 0.3911849707185 Closest_left : PPIL4 Closest_right : RPS18P9 |
.Location : . CytoBand : q25.1 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_gain_phen : . po_P_gain_hpo : . po_P_gain_source : dbVar:nssv15166690; dbVar:nssv15166692; dbVar:nssv15161859; nssv15161868; dbVar:nssv15168255; dbVar:nssv15142088; dbVar:nssv15149005; dbVar:nssv15147348; dbVar:nssv15145653; dbVar:nssv15774860 po_P_gain_coord : 6:60108-170745698; 6:108667-170671083; 6:156976-170610394; 6:165633-170610382; 6:123959239-155794038; 6:133537272-165875545; 6:135358151-155455117; 6:141132991-169339571; 6:147873951-159706222 po_P_gain_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00 po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15150210; dbVar:nssv15150486; dbVar:nssv15152942; dbVar:nssv15147046; dbVar:nssv15146329; dbVar:nssv15147285; dbVar:nssv15151136; dbVar:nssv15147357; dbVar:nssv15755713; dbVar:nssv16208093 po_P_loss_coord : 6:139191884-150068095; 6:143754559-152015870; 6:144626596-149945019; 6:144932562-152985364; 6:146481120-151427629; 6:147805120-150893715; 6:148043094-149607232; 6:148112336-149649984; 6:148369629-150173737; 6:149110187-153798929 po_P_loss_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00 |
.P_snvindel_nb : . P_snvindel_phen : . |
CMRI:3_pbsv.INS.DUP.2735; HPRC:pbsv.INS.DUP.9[...]B_gain_source : CMRI:3_pbsv.INS.DUP.2735; HPRC:pbsv.INS.DUP.9393; dbVar B_gain_coord : chr6:149564897-149584124; 6:149574169-149574303; chr6:149574169-149574303 B_gain_AFmax : 0.1262 B_loss_source : gnomAD-SV_v3_DEL_chr6_2c07ca96; gnomAD-SV_v3_DEL_chr6_3f208502 B_loss_coord : chr6:135876891-160100724; chr6:141437193-160100719 B_loss_AFmax : 0.9040 po_B_gain_allG_source : . po_B_gain_allG_coord : . po_B_gain_someG_source : 6:149574169-149574303 CMRI:3_pbsv.INS.DUP.2735; po_B_gain_someG_coord : chr6:149564897-149584124 dbVar; chr6:149574169-149574303 HPRC:pbsv.INS.DUP.9393 po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : chr6:141437193-160100719 gnomAD-SV_v3_DEL_chr6_3f208502 po_B_loss_someG_coord : chr6:135876891-160100724 gnomAD-SV_v3_DEL_chr6_2c07ca96 |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 6:149574048-149574351; 6:149574363-149574607 Repeat_type_left : AluSq; L1MEg Gap_left : . GC_content_left : 0.560 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 6:149574048-149574351; 6:149574363-149574607 Repeat_type_right : AluSq; L1MEg Gap_right : . GC_content_right : 0.560 |
CHM13,HG00438,HG00621,HG01175,HG01928,HG01952[...]Samples_ID : CHM13,HG00438,HG00621,HG01175,HG01928,HG01952,HG01978,HG02148,NA20129 |
>28999992>28999990ID : >28999992>28999990 |
TREF : T |
TCGAACTCCTGACCTCAGGTGATCCGCCTGCCTCGGCCTCCCGAG[...]ALT : TCGAACTCCTGACCTCAGGTGATCCGCCTGCCTCGGCCTCCCGAGTAGCTTGGATTACAGGTGCCCGCCACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATATTGGTCAAGGCCGGTCT |
60QUAL : 60 |
.FILTER : . |
AC=10; AF=0.11236; AN=89; AT=>28999992>[...]INFO : AC=10; AF=0.11236; AN=89; AT=>28999992>28999990,>28999992<28999991>28999990; LV=0; NS=45; e=149574270; s=136; rC=SINE/Alu |
GTFORMAT : GT |
0CHM13 : 0 |
1|1HG00438 : 1|1 |
1|0HG00621 : 1|0 |
0|0HG00673 : 0|0 |
0|0HG00733 : 0|0 |
0|0HG00735 : 0|0 |
0|0HG00741 : 0|0 |
0|0HG01071 : 0|0 |
0|0HG01106 : 0|0 |
0|0HG01109 : 0|0 |
0|0HG01123 : 0|0 |
0|1HG01175 : 0|1 |
0|0HG01243 : 0|0 |
0|0HG01258 : 0|0 |
0|0HG01358 : 0|0 |
0|0HG01361 : 0|0 |
0|0HG01891 : 0|0 |
1|0HG01928 : 1|0 |
1|0HG01952 : 1|0 |
1|1HG01978 : 1|1 |
0|0HG02055 : 0|0 |
0|0HG02080 : 0|0 |
0|0HG02109 : 0|0 |
0|0HG02145 : 0|0 |
0|1HG02148 : 0|1 |
0|0HG02257 : 0|0 |
0|0HG02486 : 0|0 |
0|0HG02559 : 0|0 |
0|0HG02572 : 0|0 |
0|0HG02622 : 0|0 |
0|0HG02630 : 0|0 |
0|0HG02717 : 0|0 |
0|0HG02723 : 0|0 |
0|0HG02818 : 0|0 |
0|0HG02886 : 0|0 |
0|0HG03098 : 0|0 |
0|0HG03453 : 0|0 |
0|0HG03486 : 0|0 |
0|0HG03492 : 0|0 |
0|0HG03516 : 0|0 |
0|0HG03540 : 0|0 |
0|0HG03579 : 0|0 |
0|0NA18906 : 0|0 |
0|1NA20129 : 0|1 |
0|0NA21309 : 0|0 |
|
full=NAACMG_class : full=NA |
INSSV_type : INS SV_length : 136 |
splitAnnotation_mode : split |
GINM1Gene_name : GINM1; LOEUF_bin : 7 GnomAD_pLI : 5.0270e-09 ExAC_pLI : 7.7068e-05 HI : . TS : . DDD_HI_percent : 60.16 ACMG : . ExAC_cnvZ : -2.47162789907313 ExAC_delZ : -0.410017654437726 ExAC_dupZ : -2.53125239294469 ExAC_synZ : 0.494170642428615 ExAC_misZ : 0.3911849707185 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 116254 |
intron3-intron3Location : intron3-intron3 CytoBand : q25.1 Location2 : CDS Tx : NM_138785 Tx_version : 5 Tx_start : 149566374 Tx_end : 149591748 Exon_count : 8 Overlapped_tx_length : 1 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 1666 Nearest_SS_type : 5' Intersect_start : 149574269 Intersect_end : 149574270 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
CMRI:3_pbsv.INS.DUP.2735; HPRC:pbsv.INS.DUP.9[...]B_gain_source : CMRI:3_pbsv.INS.DUP.2735; HPRC:pbsv.INS.DUP.9393; dbVar B_gain_coord : chr6:149564897-149584124; 6:149574169-149574303; chr6:149574169-149574303 B_gain_AFmax : 0.1262 B_loss_source : gnomAD-SV_v3_DEL_chr6_2c07ca96; gnomAD-SV_v3_DEL_chr6_3f208502 B_loss_coord : chr6:135876891-160100724; chr6:141437193-160100719 B_loss_AFmax : 0.9040 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
CHM13,HG00438,HG00621,HG01175,HG01928,HG01952[...]Samples_ID : CHM13,HG00438,HG00621,HG01175,HG01928,HG01952,HG01978,HG02148,NA20129 |
>28999992>28999990ID : >28999992>28999990 |
TREF : T |
TCGAACTCCTGACCTCAGGTGATCCGCCTGCCTCGGCCTCCCGAG[...]ALT : TCGAACTCCTGACCTCAGGTGATCCGCCTGCCTCGGCCTCCCGAGTAGCTTGGATTACAGGTGCCCGCCACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATATTGGTCAAGGCCGGTCT |
60QUAL : 60 |
.FILTER : . |
AC=10; AF=0.11236; AN=89; AT=>28999992>[...]INFO : AC=10; AF=0.11236; AN=89; AT=>28999992>28999990,>28999992<28999991>28999990; LV=0; NS=45; e=149574270; s=136; rC=SINE/Alu |
GTFORMAT : GT |
0CHM13 : 0 |
1|1HG00438 : 1|1 |
1|0HG00621 : 1|0 |
0|0HG00673 : 0|0 |
0|0HG00733 : 0|0 |
0|0HG00735 : 0|0 |
0|0HG00741 : 0|0 |
0|0HG01071 : 0|0 |
0|0HG01106 : 0|0 |
0|0HG01109 : 0|0 |
0|0HG01123 : 0|0 |
0|1HG01175 : 0|1 |
0|0HG01243 : 0|0 |
0|0HG01258 : 0|0 |
0|0HG01358 : 0|0 |
0|0HG01361 : 0|0 |
0|0HG01891 : 0|0 |
1|0HG01928 : 1|0 |
1|0HG01952 : 1|0 |
1|1HG01978 : 1|1 |
0|0HG02055 : 0|0 |
0|0HG02080 : 0|0 |
0|0HG02109 : 0|0 |
0|0HG02145 : 0|0 |
0|1HG02148 : 0|1 |
0|0HG02257 : 0|0 |
0|0HG02486 : 0|0 |
0|0HG02559 : 0|0 |
0|0HG02572 : 0|0 |
0|0HG02622 : 0|0 |
0|0HG02630 : 0|0 |
0|0HG02717 : 0|0 |
0|0HG02723 : 0|0 |
0|0HG02818 : 0|0 |
0|0HG02886 : 0|0 |
0|0HG03098 : 0|0 |
0|0HG03453 : 0|0 |
0|0HG03486 : 0|0 |
0|0HG03492 : 0|0 |
0|0HG03516 : 0|0 |
0|0HG03540 : 0|0 |
0|0HG03579 : 0|0 |
0|0NA18906 : 0|0 |
0|1NA20129 : 0|1 |
0|0NA21309 : 0|0 |
|
NAACMG_class : NA AnnotSV_ranking_score : . AnnotSV_ranking_criteria : . |
INSSV_type : INS SV_length : 325 Gene_count : 1 |
fullAnnotation_mode : full |
.Location : . CytoBand : q23.2 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
ALDH7A1 (morbid/RE=GH_enhancer); RE_gene : ALDH7A1 (morbid/RE=GH_enhancer); |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_gain_phen : . po_P_gain_hpo : . po_P_gain_source : dbVar:nssv15164761; dbVar:nssv15164765; dbVar:nssv15151111; nssv15151221; dbVar:nssv15776426; dbVar:nssv15142773 po_P_gain_coord : 5:13649-181478028; 5:25330-181266343; 5:113463-181292788; 5:90653302-129981762; 5:107380657-181260337 po_P_gain_percent : 0.00; 0.00; 0.00; 0.00; 0.00 po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15151179; dbVar:nssv15143209; nssv17976344; dbVar:nssv15138054; dbVar:nssv15139660; dbVar:nssv17970043; dbVar:nssv15146464; dbVar:nssv15136701; dbVar:nssv15133621; dbVar:nssv18329255; dbVar:nssv15132819; dbVar:nssv15119917; dbVar:nssv15121078; dbVar:nssv15126271; dbVar:nssv17977106 po_P_loss_coord : 5:17628633-177148719; 5:87104184-154620440; 5:90374607-128076423; 5:91411709-131319563; 5:101272215-126565043; 5:106619589-156124387; 5:110687443-130103838; 5:111463017-127193038; 5:113221695-128770606; 5:114707562-126507744; 5:116677123-132686163; 5:120739631-126823984; 5:123072609-130670586; 5:125661343-129564831 po_P_loss_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00 |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_gain_source : dbVar B_gain_coord : chr5:126394223-126442656 B_gain_AFmax : 0.01 B_loss_source : dbVar B_loss_coord : chr5:126394667-126395024 B_loss_AFmax : 0.01 po_B_gain_allG_source : . po_B_gain_allG_coord : . po_B_gain_someG_source : . po_B_gain_someG_coord : chr5:126394223-126442656 dbVar po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : chr5:126394667-126395024 dbVar |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : . Repeat_type_left : . Gap_left : . GC_content_left : 0.320 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : . Repeat_type_right : . Gap_right : . GC_content_right : 0.320 |
CHM13Samples_ID : CHM13 |
>26334961>26334963ID : >26334961>26334963 |
TREF : T |
TAAAGTGAGCCAGCCGGCCGGGCGCGGTGGCTCACGCCTGTAATC[...]ALT : TAAAGTGAGCCAGCCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA |
60QUAL : 60 |
.FILTER : . |
AC=1; AF=0.011236; AN=89; AT=>26334961>[...]INFO : AC=1; AF=0.011236; AN=89; AT=>26334961>26334963,>26334961>26334962>26334963; LV=1; NS=45; PS=>25662516>25796736; e=126395024; s=325; rC=SINE/Alu |
GTFORMAT : GT |
1CHM13 : 1 |
0|0HG00438 : 0|0 |
0|0HG00621 : 0|0 |
0|0HG00673 : 0|0 |
0|0HG00733 : 0|0 |
0|0HG00735 : 0|0 |
0|0HG00741 : 0|0 |
0|0HG01071 : 0|0 |
0|0HG01106 : 0|0 |
0|0HG01109 : 0|0 |
0|0HG01123 : 0|0 |
0|0HG01175 : 0|0 |
0|0HG01243 : 0|0 |
0|0HG01258 : 0|0 |
0|0HG01358 : 0|0 |
0|0HG01361 : 0|0 |
0|0HG01891 : 0|0 |
0|0HG01928 : 0|0 |
0|0HG01952 : 0|0 |
0|0HG01978 : 0|0 |
0|0HG02055 : 0|0 |
0|0HG02080 : 0|0 |
0|0HG02109 : 0|0 |
0|0HG02145 : 0|0 |
0|0HG02148 : 0|0 |
0|0HG02257 : 0|0 |
0|0HG02486 : 0|0 |
0|0HG02559 : 0|0 |
0|0HG02572 : 0|0 |
0|0HG02622 : 0|0 |
0|0HG02630 : 0|0 |
0|0HG02717 : 0|0 |
0|0HG02723 : 0|0 |
0|0HG02818 : 0|0 |
0|0HG02886 : 0|0 |
0|0HG03098 : 0|0 |
0|0HG03453 : 0|0 |
0|0HG03486 : 0|0 |
0|0HG03492 : 0|0 |
0|0HG03516 : 0|0 |
0|0HG03540 : 0|0 |
0|0HG03579 : 0|0 |
0|0NA18906 : 0|0 |
0|0NA20129 : 0|0 |
0|0NA21309 : 0|0 |
||
full=NAACMG_class : full=NA |
INSSV_type : INS SV_length : 325 |
splitAnnotation_mode : split |
intron1-intron1Location : intron1-intron1 CytoBand : q23.2 Location2 : CDS Tx : XM_047417608 Tx_version : 1 Tx_start : 126360119 Tx_end : 126491787 Exon_count : 14 Overlapped_tx_length : 1 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 34564 Nearest_SS_type : 5' Intersect_start : 126395023 Intersect_end : 126395024 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_gain_source : dbVar B_gain_coord : chr5:126394223-126442656 B_gain_AFmax : 0.01 B_loss_source : dbVar B_loss_coord : chr5:126394667-126395024 B_loss_AFmax : 0.01 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
CHM13Samples_ID : CHM13 |
>26334961>26334963ID : >26334961>26334963 |
TREF : T |
TAAAGTGAGCCAGCCGGCCGGGCGCGGTGGCTCACGCCTGTAATC[...]ALT : TAAAGTGAGCCAGCCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA |
60QUAL : 60 |
.FILTER : . |
AC=1; AF=0.011236; AN=89; AT=>26334961>[...]INFO : AC=1; AF=0.011236; AN=89; AT=>26334961>26334963,>26334961>26334962>26334963; LV=1; NS=45; PS=>25662516>25796736; e=126395024; s=325; rC=SINE/Alu |
GTFORMAT : GT |
1CHM13 : 1 |
0|0HG00438 : 0|0 |
0|0HG00621 : 0|0 |
0|0HG00673 : 0|0 |
0|0HG00733 : 0|0 |
0|0HG00735 : 0|0 |
0|0HG00741 : 0|0 |
0|0HG01071 : 0|0 |
0|0HG01106 : 0|0 |
0|0HG01109 : 0|0 |
0|0HG01123 : 0|0 |
0|0HG01175 : 0|0 |
0|0HG01243 : 0|0 |
0|0HG01258 : 0|0 |
0|0HG01358 : 0|0 |
0|0HG01361 : 0|0 |
0|0HG01891 : 0|0 |
0|0HG01928 : 0|0 |
0|0HG01952 : 0|0 |
0|0HG01978 : 0|0 |
0|0HG02055 : 0|0 |
0|0HG02080 : 0|0 |
0|0HG02109 : 0|0 |
0|0HG02145 : 0|0 |
0|0HG02148 : 0|0 |
0|0HG02257 : 0|0 |
0|0HG02486 : 0|0 |
0|0HG02559 : 0|0 |
0|0HG02572 : 0|0 |
0|0HG02622 : 0|0 |
0|0HG02630 : 0|0 |
0|0HG02717 : 0|0 |
0|0HG02723 : 0|0 |
0|0HG02818 : 0|0 |
0|0HG02886 : 0|0 |
0|0HG03098 : 0|0 |
0|0HG03453 : 0|0 |
0|0HG03486 : 0|0 |
0|0HG03492 : 0|0 |
0|0HG03516 : 0|0 |
0|0HG03540 : 0|0 |
0|0HG03579 : 0|0 |
0|0NA18906 : 0|0 |
0|0NA20129 : 0|0 |
0|0NA21309 : 0|0 |
||
NAACMG_class : NA AnnotSV_ranking_score : . AnnotSV_ranking_criteria : . |
INSSV_type : INS SV_length : 351 Gene_count : 1 |
fullAnnotation_mode : full |
CDH6Gene_name : CDH6; LOEUF_bin : 1 GnomAD_pLI : 9.1966e-01 ExAC_pLI : 9.8083e-01 HI : . TS : . DDD_HI_percent : 5.78 ExAC_cnvZ : -0.46127357274398 ExAC_delZ : 0.840184791813119 ExAC_dupZ : -0.975119925822043 ExAC_synZ : 1.12474388598996 ExAC_misZ : 2.30503023286661 Closest_left : LOC105374709 Closest_right : DROSHA |
.Location : . CytoBand : p13.3 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_gain_phen : . po_P_gain_hpo : . po_P_gain_source : dbVar:nssv15164761; dbVar:nssv15147960; dbVar:nssv15146962; dbVar:nssv15147414; dbVar:nssv15164765; dbVar:nssv15147291; dbVar:nssv15146993; dbVar:nssv15146992; dbVar:nssv15153658; dbVar:nssv15151111; nssv15151221; dbVar:nssv15148913; dbVar:nssv15149106; dbVar:nssv15151282; dbVar:nssv17970013; dbVar:nssv15154368; dbVar:nssv16866489; dbVar:nssv18330254; dbVar:nssv15136232 po_P_gain_coord : 5:13649-181478028; 5:22150-33418188; 5:22150-34041150; 5:22150-74412725; 5:25330-181266343; 5:49979-46114984; 5:54840-35680845; 5:54840-45649861; 5:113462-35739302; 5:113463-181292788; 5:4849499-36818719; 5:13461555-46098825; 5:24281087-46389237; 5:26382002-46389237; 5:27227137-45685742; 5:29081089-45293929; 5:29348647-46389237; 5:31208754-32173244 po_P_gain_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00 po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv18330851; dbVar:nssv15148058; dbVar:nssv15148554; dbVar:nssv15147416; dbVar:nssv15166282; dbVar:nssv15145995; dbVar:nssv18329189; dbVar:nssv15151179; dbVar:nssv15134418; dbVar:nssv15133951 po_P_loss_coord : 5:10002-32090932; 5:22150-32248010; 5:22150-34041091; 5:22150-35831538; 5:25330-31343564; 5:113462-33998289; 5:113463-31448420; 5:17628633-177148719; 5:30149036-35213678; 5:30961311-36143306 po_P_loss_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00 |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_gain_source : dbVar B_gain_coord : chr5:31134943-31452028 B_gain_AFmax : 0.01 B_loss_source : gnomAD-SV_v3_DEL_chr5_c0e24b64 B_loss_coord : chr5:29530278-34147842 B_loss_AFmax : 0.0233 po_B_gain_allG_source : . po_B_gain_allG_coord : . po_B_gain_someG_source : . po_B_gain_someG_coord : chr5:31134943-31452028 dbVar po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : chr5:29530278-34147842 gnomAD-SV_v3_DEL_chr5_c0e24b64 |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 5:31233073-31233194; 5:31233309-31233537 Repeat_type_left : (AC)n; AluJb Gap_left : . GC_content_left : 0.310 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 5:31233073-31233194; 5:31233309-31233537 Repeat_type_right : (AC)n; AluJb Gap_right : . GC_content_right : 0.310 |
CHM13,HG02818Samples_ID : CHM13,HG02818 |
>23247877>23247879ID : >23247877>23247879 |
GREF : G |
GCTAAAAGAGGGCCGGGCGTGGTGGCTCACGCCTGTAATCCCAGC[...]ALT : GCTAAAAGAGGGCCGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACACAGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGAGCGGTGGCGGGCTCCTGTAGTCCCAGCTACTTGAGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCCAGACGCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAG |
60QUAL : 60 |
.FILTER : . |
AC=1; AF=0.011236; AN=89; AT=>23247877>[...]INFO : AC=1; AF=0.011236; AN=89; AT=>23247877>23247879,>23247877<23247878>23247879; LV=0; NS=45; e=31233247; s=351; rC=SINE/Alu |
GTFORMAT : GT |
0CHM13 : 0 |
0|0HG00438 : 0|0 |
0|0HG00621 : 0|0 |
0|0HG00673 : 0|0 |
0|0HG00733 : 0|0 |
0|0HG00735 : 0|0 |
0|0HG00741 : 0|0 |
0|0HG01071 : 0|0 |
0|0HG01106 : 0|0 |
0|0HG01109 : 0|0 |
0|0HG01123 : 0|0 |
0|0HG01175 : 0|0 |
0|0HG01243 : 0|0 |
0|0HG01258 : 0|0 |
0|0HG01358 : 0|0 |
0|0HG01361 : 0|0 |
0|0HG01891 : 0|0 |
0|0HG01928 : 0|0 |
0|0HG01952 : 0|0 |
0|0HG01978 : 0|0 |
0|0HG02055 : 0|0 |
0|0HG02080 : 0|0 |
0|0HG02109 : 0|0 |
0|0HG02145 : 0|0 |
0|0HG02148 : 0|0 |
0|0HG02257 : 0|0 |
0|0HG02486 : 0|0 |
0|0HG02559 : 0|0 |
0|0HG02572 : 0|0 |
0|0HG02622 : 0|0 |
0|0HG02630 : 0|0 |
0|0HG02717 : 0|0 |
0|0HG02723 : 0|0 |
0|1HG02818 : 0|1 |
0|0HG02886 : 0|0 |
0|0HG03098 : 0|0 |
0|0HG03453 : 0|0 |
0|0HG03486 : 0|0 |
0|0HG03492 : 0|0 |
0|0HG03516 : 0|0 |
0|0HG03540 : 0|0 |
0|0HG03579 : 0|0 |
0|0NA18906 : 0|0 |
0|0NA20129 : 0|0 |
0|0NA21309 : 0|0 |
|
full=NAACMG_class : full=NA |
INSSV_type : INS SV_length : 351 |
splitAnnotation_mode : split |
CDH6Gene_name : CDH6; LOEUF_bin : 1 GnomAD_pLI : 9.1966e-01 ExAC_pLI : 9.8083e-01 HI : . TS : . DDD_HI_percent : 5.78 ACMG : . ExAC_cnvZ : -0.46127357274398 ExAC_delZ : 0.840184791813119 ExAC_dupZ : -0.975119925822043 ExAC_synZ : 1.12474388598996 ExAC_misZ : 2.30503023286661 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 1004 |
intron1-intron1Location : intron1-intron1 CytoBand : p13.3 Location2 : 5'UTR Tx : NM_001362435 Tx_version : 2 Tx_start : 31193685 Tx_end : 31319380 Exon_count : 11 Overlapped_tx_length : 1 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 34098 Nearest_SS_type : 3' Intersect_start : 31233246 Intersect_end : 31233247 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_gain_source : dbVar B_gain_coord : chr5:31134943-31452028 B_gain_AFmax : 0.01 B_loss_source : gnomAD-SV_v3_DEL_chr5_c0e24b64 B_loss_coord : chr5:29530278-34147842 B_loss_AFmax : 0.0233 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
CHM13,HG02818Samples_ID : CHM13,HG02818 |
>23247877>23247879ID : >23247877>23247879 |
GREF : G |
GCTAAAAGAGGGCCGGGCGTGGTGGCTCACGCCTGTAATCCCAGC[...]ALT : GCTAAAAGAGGGCCGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACACAGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGAGCGGTGGCGGGCTCCTGTAGTCCCAGCTACTTGAGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCCAGACGCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAG |
60QUAL : 60 |
.FILTER : . |
AC=1; AF=0.011236; AN=89; AT=>23247877>[...]INFO : AC=1; AF=0.011236; AN=89; AT=>23247877>23247879,>23247877<23247878>23247879; LV=0; NS=45; e=31233247; s=351; rC=SINE/Alu |
GTFORMAT : GT |
0CHM13 : 0 |
0|0HG00438 : 0|0 |
0|0HG00621 : 0|0 |
0|0HG00673 : 0|0 |
0|0HG00733 : 0|0 |
0|0HG00735 : 0|0 |
0|0HG00741 : 0|0 |
0|0HG01071 : 0|0 |
0|0HG01106 : 0|0 |
0|0HG01109 : 0|0 |
0|0HG01123 : 0|0 |
0|0HG01175 : 0|0 |
0|0HG01243 : 0|0 |
0|0HG01258 : 0|0 |
0|0HG01358 : 0|0 |
0|0HG01361 : 0|0 |
0|0HG01891 : 0|0 |
0|0HG01928 : 0|0 |
0|0HG01952 : 0|0 |
0|0HG01978 : 0|0 |
0|0HG02055 : 0|0 |
0|0HG02080 : 0|0 |
0|0HG02109 : 0|0 |
0|0HG02145 : 0|0 |
0|0HG02148 : 0|0 |
0|0HG02257 : 0|0 |
0|0HG02486 : 0|0 |
0|0HG02559 : 0|0 |
0|0HG02572 : 0|0 |
0|0HG02622 : 0|0 |
0|0HG02630 : 0|0 |
0|0HG02717 : 0|0 |
0|0HG02723 : 0|0 |
0|1HG02818 : 0|1 |
0|0HG02886 : 0|0 |
0|0HG03098 : 0|0 |
0|0HG03453 : 0|0 |
0|0HG03486 : 0|0 |
0|0HG03492 : 0|0 |
0|0HG03516 : 0|0 |
0|0HG03540 : 0|0 |
0|0HG03579 : 0|0 |
0|0NA18906 : 0|0 |
0|0NA20129 : 0|0 |
0|0NA21309 : 0|0 |
|
NAACMG_class : NA AnnotSV_ranking_score : . AnnotSV_ranking_criteria : . |
INSSV_type : INS SV_length : 337 Gene_count : 1 |
fullAnnotation_mode : full |
LOC102724210Gene_name : LOC102724210; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . Closest_left : LOC107986312 Closest_right : LOC105377412 |
.Location : . CytoBand : q28.1 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_gain_phen : . po_P_gain_hpo : . po_P_gain_source : dbVar:nssv15165478; dbVar:nssv15148693; dbVar:nssv15165480; dbVar:nssv15164282; dbVar:nssv15149870; nssv15151360; dbVar:nssv17956560; dbVar:nssv15142052; dbVar:nssv15121045; dbVar:nssv17969974; dbVar:nssv15151155; dbVar:nssv15132412; dbVar:nssv15124374; dbVar:nssv15132155; dbVar:nssv15777237; dbVar:nssv15135575 po_P_gain_coord : 4:11526-190107724; 4:12441-189983286; 4:49557-189994495; 4:49557-190042611; 4:68455-190036318; 4:52000779-142661354; 4:92150002-190036318; 4:96092894-136410207; 4:103794079-144331443; 4:108278509-188831572; 4:118065570-190042639; 4:118516341-189983146; 4:121518224-190062270; 4:123952343-184357509; 4:125432944-185761887 po_P_gain_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00 po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv17955989; dbVar:nssv15152873; dbVar:nssv16867390; dbVar:nssv17969979; dbVar:nssv15134394; dbVar:nssv15138751; dbVar:nssv15165153; dbVar:nssv15125388; dbVar:nssv15121752; dbVar:nssv15151701 po_P_loss_coord : 4:113951392-137084113; 4:115386702-128381805; 4:115912483-129310967; 4:115967630-128728824; 4:116630863-145429900; 4:117351882-133565667; 4:123361449-133093144; 4:124329927-127365474; 4:125118621-132773079; 4:125628539-140391895 po_P_loss_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00 |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_gain_source : dbVar B_gain_coord : chr4:126905432-127741428; chr4:127273719-127622583 B_gain_AFmax : 0.01 B_loss_source : dbVar; gnomAD-SV_v3_DEL_chr4_aa7116c9; gnomAD-SV_v3_DEL_chr4_e8bd9f62 B_loss_coord : chr4:73564711-189048534; chr4:90675744-168705093; chr4:127355778-127360687 B_loss_AFmax : 0.2162 po_B_gain_allG_source : . po_B_gain_allG_coord : . po_B_gain_someG_source : chr4:127273719-127622583 dbVar po_B_gain_someG_coord : chr4:126905432-127741428 dbVar po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : chr4:90675744-168705093 gnomAD-SV_v3_DEL_chr4_e8bd9f62; po_B_loss_someG_coord : chr4:73564711-189048534 gnomAD-SV_v3_DEL_chr4_aa7116c9; chr4:127355778-127360687 dbVar |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 4:127357381-127360091 Repeat_type_left : Arthur1 Gap_left : . GC_content_left : 0.330 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 4:127357381-127360091 Repeat_type_right : Arthur1 Gap_right : . GC_content_right : 0.325 |
CHM13,HG01891Samples_ID : CHM13,HG01891 |
>20984167>20984169ID : >20984167>20984169 |
TREF : T |
TCAAGTCAGCAATACTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[...]ALT : TCAAGTCAGCAATACTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGC |
60QUAL : 60 |
.FILTER : . |
AC=1; AF=0.011236; AN=89; AT=>20984167>[...]INFO : AC=1; AF=0.011236; AN=89; AT=>20984167>20984169,>20984167>20984168>20984169; LV=0; NS=45; e=127357960; s=337; rC=SINE/Alu |
GTFORMAT : GT |
0CHM13 : 0 |
0|0HG00438 : 0|0 |
0|0HG00621 : 0|0 |
0|0HG00673 : 0|0 |
0|0HG00733 : 0|0 |
0|0HG00735 : 0|0 |
0|0HG00741 : 0|0 |
0|0HG01071 : 0|0 |
0|0HG01106 : 0|0 |
0|0HG01109 : 0|0 |
0|0HG01123 : 0|0 |
0|0HG01175 : 0|0 |
0|0HG01243 : 0|0 |
0|0HG01258 : 0|0 |
0|0HG01358 : 0|0 |
0|0HG01361 : 0|0 |
1|0HG01891 : 1|0 |
0|0HG01928 : 0|0 |
0|0HG01952 : 0|0 |
0|0HG01978 : 0|0 |
0|0HG02055 : 0|0 |
0|0HG02080 : 0|0 |
0|0HG02109 : 0|0 |
0|0HG02145 : 0|0 |
0|0HG02148 : 0|0 |
0|0HG02257 : 0|0 |
0|0HG02486 : 0|0 |
0|0HG02559 : 0|0 |
0|0HG02572 : 0|0 |
0|0HG02622 : 0|0 |
0|0HG02630 : 0|0 |
0|0HG02717 : 0|0 |
0|0HG02723 : 0|0 |
0|0HG02818 : 0|0 |
0|0HG02886 : 0|0 |
0|0HG03098 : 0|0 |
0|0HG03453 : 0|0 |
0|0HG03486 : 0|0 |
0|0HG03492 : 0|0 |
0|0HG03516 : 0|0 |
0|0HG03540 : 0|0 |
0|0HG03579 : 0|0 |
0|0NA18906 : 0|0 |
0|0NA20129 : 0|0 |
0|0NA21309 : 0|0 |
|
full=NAACMG_class : full=NA |
INSSV_type : INS SV_length : 337 |
splitAnnotation_mode : split |
LOC102724210Gene_name : LOC102724210; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
intron4-intron4Location : intron4-intron4 CytoBand : q28.1 Location2 : UTR Tx : XR_001741824 Tx_version : 3 Tx_start : 127073775 Tx_end : 127470555 Exon_count : 11 Overlapped_tx_length : 1 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 43765 Nearest_SS_type : 5' Intersect_start : 127357959 Intersect_end : 127357960 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_gain_source : dbVar B_gain_coord : chr4:126905432-127741428; chr4:127273719-127622583 B_gain_AFmax : 0.01 B_loss_source : dbVar; gnomAD-SV_v3_DEL_chr4_aa7116c9; gnomAD-SV_v3_DEL_chr4_e8bd9f62 B_loss_coord : chr4:73564711-189048534; chr4:90675744-168705093; chr4:127355778-127360687 B_loss_AFmax : 0.2162 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
CHM13,HG01891Samples_ID : CHM13,HG01891 |
>20984167>20984169ID : >20984167>20984169 |
TREF : T |
TCAAGTCAGCAATACTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[...]ALT : TCAAGTCAGCAATACTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGC |
60QUAL : 60 |
.FILTER : . |
AC=1; AF=0.011236; AN=89; AT=>20984167>[...]INFO : AC=1; AF=0.011236; AN=89; AT=>20984167>20984169,>20984167>20984168>20984169; LV=0; NS=45; e=127357960; s=337; rC=SINE/Alu |
GTFORMAT : GT |
0CHM13 : 0 |
0|0HG00438 : 0|0 |
0|0HG00621 : 0|0 |
0|0HG00673 : 0|0 |
0|0HG00733 : 0|0 |
0|0HG00735 : 0|0 |
0|0HG00741 : 0|0 |
0|0HG01071 : 0|0 |
0|0HG01106 : 0|0 |
0|0HG01109 : 0|0 |
0|0HG01123 : 0|0 |
0|0HG01175 : 0|0 |
0|0HG01243 : 0|0 |
0|0HG01258 : 0|0 |
0|0HG01358 : 0|0 |
0|0HG01361 : 0|0 |
1|0HG01891 : 1|0 |
0|0HG01928 : 0|0 |
0|0HG01952 : 0|0 |
0|0HG01978 : 0|0 |
0|0HG02055 : 0|0 |
0|0HG02080 : 0|0 |
0|0HG02109 : 0|0 |
0|0HG02145 : 0|0 |
0|0HG02148 : 0|0 |
0|0HG02257 : 0|0 |
0|0HG02486 : 0|0 |
0|0HG02559 : 0|0 |
0|0HG02572 : 0|0 |
0|0HG02622 : 0|0 |
0|0HG02630 : 0|0 |
0|0HG02717 : 0|0 |
0|0HG02723 : 0|0 |
0|0HG02818 : 0|0 |
0|0HG02886 : 0|0 |
0|0HG03098 : 0|0 |
0|0HG03453 : 0|0 |
0|0HG03486 : 0|0 |
0|0HG03492 : 0|0 |
0|0HG03516 : 0|0 |
0|0HG03540 : 0|0 |
0|0HG03579 : 0|0 |
0|0NA18906 : 0|0 |
0|0NA20129 : 0|0 |
0|0NA21309 : 0|0 |
|
NAACMG_class : NA AnnotSV_ranking_score : . AnnotSV_ranking_criteria : . |
INSSV_type : INS SV_length : 349 Gene_count : 1 |
fullAnnotation_mode : full |
CAMK2DGene_name : CAMK2D; LOEUF_bin : 2 GnomAD_pLI : 2.2870e-03 ExAC_pLI : 1.6662e-02 HI : . TS : . DDD_HI_percent : 13.51 ExAC_cnvZ : 0.521730912205048 ExAC_delZ : 1.14404983000863 ExAC_dupZ : 0.0960449828285803 ExAC_synZ : 0.690842560350335 ExAC_misZ : 2.60528840762041 Closest_left : LOC105377374 Closest_right : LOC105377375 |
.Location : . CytoBand : q26 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_gain_phen : . po_P_gain_hpo : . po_P_gain_source : dbVar:nssv15165478; dbVar:nssv15148693; dbVar:nssv15165480; dbVar:nssv15164282; dbVar:nssv15149870; nssv15151360; dbVar:nssv17956560; dbVar:nssv15142052; dbVar:nssv15121045; dbVar:nssv17969974; dbVar:nssv15151155 po_P_gain_coord : 4:11526-190107724; 4:12441-189983286; 4:49557-189994495; 4:49557-190042611; 4:68455-190036318; 4:52000779-142661354; 4:92150002-190036318; 4:96092894-136410207; 4:103794079-144331443; 4:108278509-188831572 po_P_gain_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00 po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15124469; dbVar:nssv15133891; dbVar:nssv17969977 po_P_loss_coord : 4:110853396-114363395; 4:111069786-116691879; 4:111927953-114513401 po_P_loss_percent : 0.00; 0.00; 0.00 |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_gain_source : dbVar B_gain_coord : chr4:113722759-113853762 B_gain_AFmax : 0.01 B_loss_source : gnomAD-SV_v3_DEL_chr4_aa7116c9; gnomAD-SV_v3_DEL_chr4_b7efc8a3; gnomAD-SV_v3_DEL_chr4_e8bd9f62 B_loss_coord : chr4:73564711-189048534; chr4:90675744-168705093; chr4:105985332-120588333 B_loss_AFmax : 0.7587 po_B_gain_allG_source : . po_B_gain_allG_coord : . po_B_gain_someG_source : . po_B_gain_someG_coord : chr4:113722759-113853762 dbVar po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : chr4:90675744-168705093 gnomAD-SV_v3_DEL_chr4_e8bd9f62; po_B_loss_someG_coord : chr4:73564711-189048534 gnomAD-SV_v3_DEL_chr4_aa7116c9; chr4:105985332-120588333 gnomAD-SV_v3_DEL_chr4_b7efc8a3 |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 4:113724625-113724917 Repeat_type_left : L1MC Gap_left : . GC_content_left : 0.265 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 4:113724625-113724917 Repeat_type_right : L1MC Gap_right : . GC_content_right : 0.260 |
CHM13,HG01928Samples_ID : CHM13,HG01928 |
>20594486>20594484ID : >20594486>20594484 |
TREF : T |
TCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[...]ALT : TCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGATAATAT |
60QUAL : 60 |
.FILTER : . |
AC=1; AF=0.011236; AN=89; AT=>20594486>[...]INFO : AC=1; AF=0.011236; AN=89; AT=>20594486>20594484,>20594486>20594485>20594484; LV=0; NS=45; e=113724784; s=349; rC=SINE/Alu |
GTFORMAT : GT |
0CHM13 : 0 |
0|0HG00438 : 0|0 |
0|0HG00621 : 0|0 |
0|0HG00673 : 0|0 |
0|0HG00733 : 0|0 |
0|0HG00735 : 0|0 |
0|0HG00741 : 0|0 |
0|0HG01071 : 0|0 |
0|0HG01106 : 0|0 |
0|0HG01109 : 0|0 |
0|0HG01123 : 0|0 |
0|0HG01175 : 0|0 |
0|0HG01243 : 0|0 |
0|0HG01258 : 0|0 |
0|0HG01358 : 0|0 |
0|0HG01361 : 0|0 |
0|0HG01891 : 0|0 |
1|0HG01928 : 1|0 |
0|0HG01952 : 0|0 |
0|0HG01978 : 0|0 |
0|0HG02055 : 0|0 |
0|0HG02080 : 0|0 |
0|0HG02109 : 0|0 |
0|0HG02145 : 0|0 |
0|0HG02148 : 0|0 |
0|0HG02257 : 0|0 |
0|0HG02486 : 0|0 |
0|0HG02559 : 0|0 |
0|0HG02572 : 0|0 |
0|0HG02622 : 0|0 |
0|0HG02630 : 0|0 |
0|0HG02717 : 0|0 |
0|0HG02723 : 0|0 |
0|0HG02818 : 0|0 |
0|0HG02886 : 0|0 |
0|0HG03098 : 0|0 |
0|0HG03453 : 0|0 |
0|0HG03486 : 0|0 |
0|0HG03492 : 0|0 |
0|0HG03516 : 0|0 |
0|0HG03540 : 0|0 |
0|0HG03579 : 0|0 |
0|0NA18906 : 0|0 |
0|0NA20129 : 0|0 |
0|0NA21309 : 0|0 |
|
full=NAACMG_class : full=NA |
INSSV_type : INS SV_length : 349 |
splitAnnotation_mode : split |
CAMK2DGene_name : CAMK2D; LOEUF_bin : 2 GnomAD_pLI : 2.2870e-03 ExAC_pLI : 1.6662e-02 HI : . TS : . DDD_HI_percent : 13.51 ACMG : . ExAC_cnvZ : 0.521730912205048 ExAC_delZ : 1.14404983000863 ExAC_dupZ : 0.0960449828285803 ExAC_synZ : 0.690842560350335 ExAC_misZ : 2.60528840762041 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 817 |
intron2-intron2Location : intron2-intron2 CytoBand : q26 Location2 : CDS Tx : NM_001221 Tx_version : 4 Tx_start : 113451031 Tx_end : 113761738 Exon_count : 19 Overlapped_tx_length : 1 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 34535 Nearest_SS_type : 5' Intersect_start : 113724783 Intersect_end : 113724784 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_gain_source : dbVar B_gain_coord : chr4:113722759-113853762 B_gain_AFmax : 0.01 B_loss_source : gnomAD-SV_v3_DEL_chr4_aa7116c9; gnomAD-SV_v3_DEL_chr4_b7efc8a3; gnomAD-SV_v3_DEL_chr4_e8bd9f62 B_loss_coord : chr4:73564711-189048534; chr4:90675744-168705093; chr4:105985332-120588333 B_loss_AFmax : 0.7587 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
CHM13,HG01928Samples_ID : CHM13,HG01928 |
>20594486>20594484ID : >20594486>20594484 |
TREF : T |
TCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[...]ALT : TCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGATAATAT |
60QUAL : 60 |
.FILTER : . |
AC=1; AF=0.011236; AN=89; AT=>20594486>[...]INFO : AC=1; AF=0.011236; AN=89; AT=>20594486>20594484,>20594486>20594485>20594484; LV=0; NS=45; e=113724784; s=349; rC=SINE/Alu |
GTFORMAT : GT |
0CHM13 : 0 |
0|0HG00438 : 0|0 |
0|0HG00621 : 0|0 |
0|0HG00673 : 0|0 |
0|0HG00733 : 0|0 |
0|0HG00735 : 0|0 |
0|0HG00741 : 0|0 |
0|0HG01071 : 0|0 |
0|0HG01106 : 0|0 |
0|0HG01109 : 0|0 |
0|0HG01123 : 0|0 |
0|0HG01175 : 0|0 |
0|0HG01243 : 0|0 |
0|0HG01258 : 0|0 |
0|0HG01358 : 0|0 |
0|0HG01361 : 0|0 |
0|0HG01891 : 0|0 |
1|0HG01928 : 1|0 |
0|0HG01952 : 0|0 |
0|0HG01978 : 0|0 |
0|0HG02055 : 0|0 |
0|0HG02080 : 0|0 |
0|0HG02109 : 0|0 |
0|0HG02145 : 0|0 |
0|0HG02148 : 0|0 |
0|0HG02257 : 0|0 |
0|0HG02486 : 0|0 |
0|0HG02559 : 0|0 |
0|0HG02572 : 0|0 |
0|0HG02622 : 0|0 |
0|0HG02630 : 0|0 |
0|0HG02717 : 0|0 |
0|0HG02723 : 0|0 |
0|0HG02818 : 0|0 |
0|0HG02886 : 0|0 |
0|0HG03098 : 0|0 |
0|0HG03453 : 0|0 |
0|0HG03486 : 0|0 |
0|0HG03492 : 0|0 |
0|0HG03516 : 0|0 |
0|0HG03540 : 0|0 |
0|0HG03579 : 0|0 |
0|0NA18906 : 0|0 |
0|0NA20129 : 0|0 |
0|0NA21309 : 0|0 |
|
NAACMG_class : NA AnnotSV_ranking_score : . AnnotSV_ranking_criteria : . |
INSSV_type : INS SV_length : 337 Gene_count : 1 |
fullAnnotation_mode : full |
LOC105377262Gene_name : LOC105377262; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . Closest_left : MIR1269A Closest_right : LOC101927237 |
.Location : . CytoBand : q13.2 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_gain_phen : . po_P_gain_hpo : . po_P_gain_source : dbVar:nssv15165478; dbVar:nssv15148693; dbVar:nssv15165480; dbVar:nssv15164282; dbVar:nssv15149870; nssv15151360; dbVar:nssv15120560; dbVar:nssv15145710; dbVar:nssv17956560; dbVar:nssv15153593 po_P_gain_coord : 4:11526-190107724; 4:12441-189983286; 4:49557-189994495; 4:49557-190042611; 4:68455-190036318; 4:51831623-66991489; 4:51831623-97505618; 4:52000779-142661354; 4:63839784-72603999 po_P_gain_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00 po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv17173265; dbVar:nssv15165214; dbVar:nssv15125766; dbVar:nssv15755202; dbVar:nssv17969950; dbVar:nssv15141158; dbVar:nssv15132956; dbVar:nssv15132546 po_P_loss_coord : 4:51891815-76009719; 4:57466129-70721898; 4:58301080-100989502; 4:60739739-67897225; 4:61001838-73845800; 4:65151858-75851794; 4:65454563-72313693; 4:66842409-70831557 po_P_loss_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . B_loss_source : dbVar; gnomAD-SV_v3_DEL_chr4_48ff321a B_loss_coord : chr4:65506280-67062809; chr4:66715282-66982282 B_loss_AFmax : 0.0641 po_B_gain_allG_source : . po_B_gain_allG_coord : . po_B_gain_someG_source : . po_B_gain_someG_coord : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : chr4:66715282-66982282 dbVar po_B_loss_someG_coord : chr4:65506280-67062809 gnomAD-SV_v3_DEL_chr4_48ff321a |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : . Repeat_type_left : . Gap_left : . GC_content_left : 0.275 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : . Repeat_type_right : . Gap_right : . GC_content_right : 0.270 |
CHM13,HG02055Samples_ID : CHM13,HG02055 |
>19737002>19737004ID : >19737002>19737004 |
GREF : G |
GCTGTTAAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[...]ALT : GCTGTTAAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATTTTAGCCGGGGTGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGGG |
60QUAL : 60 |
.FILTER : . |
AC=1; AF=0.011236; AN=89; AT=>19737002>[...]INFO : AC=1; AF=0.011236; AN=89; AT=>19737002>19737004,>19737002>19737003>19737004; LV=0; NS=45; e=66913302; s=337; rC=SINE/Alu |
GTFORMAT : GT |
0CHM13 : 0 |
0|0HG00438 : 0|0 |
0|0HG00621 : 0|0 |
0|0HG00673 : 0|0 |
0|0HG00733 : 0|0 |
0|0HG00735 : 0|0 |
0|0HG00741 : 0|0 |
0|0HG01071 : 0|0 |
0|0HG01106 : 0|0 |
0|0HG01109 : 0|0 |
0|0HG01123 : 0|0 |
0|0HG01175 : 0|0 |
0|0HG01243 : 0|0 |
0|0HG01258 : 0|0 |
0|0HG01358 : 0|0 |
0|0HG01361 : 0|0 |
0|0HG01891 : 0|0 |
0|0HG01928 : 0|0 |
0|0HG01952 : 0|0 |
0|0HG01978 : 0|0 |
0|1HG02055 : 0|1 |
0|0HG02080 : 0|0 |
0|0HG02109 : 0|0 |
0|0HG02145 : 0|0 |
0|0HG02148 : 0|0 |
0|0HG02257 : 0|0 |
0|0HG02486 : 0|0 |
0|0HG02559 : 0|0 |
0|0HG02572 : 0|0 |
0|0HG02622 : 0|0 |
0|0HG02630 : 0|0 |
0|0HG02717 : 0|0 |
0|0HG02723 : 0|0 |
0|0HG02818 : 0|0 |
0|0HG02886 : 0|0 |
0|0HG03098 : 0|0 |
0|0HG03453 : 0|0 |
0|0HG03486 : 0|0 |
0|0HG03492 : 0|0 |
0|0HG03516 : 0|0 |
0|0HG03540 : 0|0 |
0|0HG03579 : 0|0 |
0|0NA18906 : 0|0 |
0|0NA20129 : 0|0 |
0|0NA21309 : 0|0 |
|
full=NAACMG_class : full=NA |
INSSV_type : INS SV_length : 337 |
splitAnnotation_mode : split |
LOC105377262Gene_name : LOC105377262; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
intron1-intron1Location : intron1-intron1 CytoBand : q13.2 Location2 : UTR Tx : XR_938847 Tx_version : 2 Tx_start : 66862863 Tx_end : 67077632 Exon_count : 4 Overlapped_tx_length : 1 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 42454 Nearest_SS_type : 3' Intersect_start : 66913301 Intersect_end : 66913302 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . B_loss_source : dbVar; gnomAD-SV_v3_DEL_chr4_48ff321a B_loss_coord : chr4:65506280-67062809; chr4:66715282-66982282 B_loss_AFmax : 0.0641 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
CHM13,HG02055Samples_ID : CHM13,HG02055 |
>19737002>19737004ID : >19737002>19737004 |
GREF : G |
GCTGTTAAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[...]ALT : GCTGTTAAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATTTTAGCCGGGGTGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGGG |
60QUAL : 60 |
.FILTER : . |
AC=1; AF=0.011236; AN=89; AT=>19737002>[...]INFO : AC=1; AF=0.011236; AN=89; AT=>19737002>19737004,>19737002>19737003>19737004; LV=0; NS=45; e=66913302; s=337; rC=SINE/Alu |
GTFORMAT : GT |
0CHM13 : 0 |
0|0HG00438 : 0|0 |
0|0HG00621 : 0|0 |
0|0HG00673 : 0|0 |
0|0HG00733 : 0|0 |
0|0HG00735 : 0|0 |
0|0HG00741 : 0|0 |
0|0HG01071 : 0|0 |
0|0HG01106 : 0|0 |
0|0HG01109 : 0|0 |
0|0HG01123 : 0|0 |
0|0HG01175 : 0|0 |
0|0HG01243 : 0|0 |
0|0HG01258 : 0|0 |
0|0HG01358 : 0|0 |
0|0HG01361 : 0|0 |
0|0HG01891 : 0|0 |
0|0HG01928 : 0|0 |
0|0HG01952 : 0|0 |
0|0HG01978 : 0|0 |
0|1HG02055 : 0|1 |
0|0HG02080 : 0|0 |
0|0HG02109 : 0|0 |
0|0HG02145 : 0|0 |
0|0HG02148 : 0|0 |
0|0HG02257 : 0|0 |
0|0HG02486 : 0|0 |
0|0HG02559 : 0|0 |
0|0HG02572 : 0|0 |
0|0HG02622 : 0|0 |
0|0HG02630 : 0|0 |
0|0HG02717 : 0|0 |
0|0HG02723 : 0|0 |
0|0HG02818 : 0|0 |
0|0HG02886 : 0|0 |
0|0HG03098 : 0|0 |
0|0HG03453 : 0|0 |
0|0HG03486 : 0|0 |
0|0HG03492 : 0|0 |
0|0HG03516 : 0|0 |
0|0HG03540 : 0|0 |
0|0HG03579 : 0|0 |
0|0NA18906 : 0|0 |
0|0NA20129 : 0|0 |
0|0NA21309 : 0|0 |
|
NAACMG_class : NA AnnotSV_ranking_score : . AnnotSV_ranking_criteria : . |
INSSV_type : INS SV_length : 107 Gene_count : 1 |
fullAnnotation_mode : full |
IL12A-AS1Gene_name : IL12A-AS1; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . Closest_left : LOC124906299 Closest_right : IL12A |
.Location : . CytoBand : q25.33 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_gain_phen : . po_P_gain_hpo : . po_P_gain_source : dbVar:nssv15162889; dbVar:nssv15164144; dbVar:nssv15149891; nssv15151839; dbVar:nssv15148025; dbVar:nssv18330760; dbVar:nssv16215292; dbVar:nssv16867380; dbVar:nssv15147564; dbVar:nssv17969903; dbVar:nssv15121038; dbVar:nssv15146977; dbVar:nssv15145927; dbVar:nssv15147555; dbVar:nssv15147518; dbVar:nssv15145707; dbVar:nssv17969910; dbVar:nssv15132154; dbVar:nssv15149548 po_P_gain_coord : 3:18497-198221156; 3:19818-198111391; 3:20215-198125115; 3:103426883-198110178; 3:116901462-172324502; 3:138426448-162557822; 3:138454842-162776911; 3:143276179-193279426; 3:145769174-160787046; 3:147442567-178522531; 3:147521893-198096565; 3:152100513-198118383; 3:156118442-198125115; 3:156321879-198113452; 3:157293379-198134727; 3:157410950-181919545; 3:158141557-172788324; 3:159262843-198040019 po_P_gain_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00 po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv17955929 po_P_loss_coord : 3:143720518-165534334 po_P_loss_percent : 0.00 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_gain_allG_source : . po_B_gain_allG_coord : . po_B_gain_someG_source : . po_B_gain_someG_coord : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 3:159963344-159963486; 3:159963496-159963746 Repeat_type_left : AluJr4; Tigger2b_Pri Gap_left : . GC_content_left : 0.430 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 3:159963344-159963486; 3:159963496-159963746 Repeat_type_right : AluJr4; Tigger2b_Pri Gap_right : . GC_content_right : 0.430 |
CHM13,HG00438,HG00621,HG00673,HG00733,HG00735[...]Samples_ID : CHM13,HG00438,HG00621,HG00673,HG00733,HG00735,HG00741,HG01071,HG01106,HG01109,HG01123,HG01175,HG01243,HG01258,HG01358,HG01361,HG01891,HG01928,HG01952,HG01978,HG02055,HG02080,HG02109,HG02145,HG02148,HG02257,HG02486,HG02559,HG02572,HG02622,HG02630,HG02717,HG02723,HG02818,HG02886,HG03098,HG03453,HG03486,HG03492,HG03516,HG03540,HG03579,NA18906,NA20129,NA21309 |
>14060641>14060639ID : >14060641>14060639 |
GREF : G |
GTAGCTAGGACTGTGCCTGGCTAATTTTTTATTTTTTGTAGAGAC[...]ALT : GTAGCTAGGACTGTGCCTGGCTAATTTTTTATTTTTTGTAGAGACAGAGTCTCACTATGTTGCCCAGGCTGGCATAGTGAGACTCTGTCTCCACAAAAAATAAAAAAT |
60QUAL : 60 |
.FILTER : . |
AC=89; AF=1; AN=89; AT=>14060641>140606[...]INFO : AC=89; AF=1; AN=89; AT=>14060641>14060639,>14060641>14060640>14060639; LV=0; NS=45; e=159963478; s=107; rC=SINE/Alu |
GTFORMAT : GT |
1CHM13 : 1 |
1|1HG00438 : 1|1 |
1|1HG00621 : 1|1 |
1|1HG00673 : 1|1 |
1|1HG00733 : 1|1 |
1|1HG00735 : 1|1 |
1|1HG00741 : 1|1 |
1|1HG01071 : 1|1 |
1|1HG01106 : 1|1 |
1|1HG01109 : 1|1 |
1|1HG01123 : 1|1 |
1|1HG01175 : 1|1 |
1|1HG01243 : 1|1 |
1|1HG01258 : 1|1 |
1|1HG01358 : 1|1 |
1|1HG01361 : 1|1 |
1|1HG01891 : 1|1 |
1|1HG01928 : 1|1 |
1|1HG01952 : 1|1 |
1|1HG01978 : 1|1 |
1|1HG02055 : 1|1 |
1|1HG02080 : 1|1 |
1|1HG02109 : 1|1 |
1|1HG02145 : 1|1 |
1|1HG02148 : 1|1 |
1|1HG02257 : 1|1 |
1|1HG02486 : 1|1 |
1|1HG02559 : 1|1 |
1|1HG02572 : 1|1 |
1|1HG02622 : 1|1 |
1|1HG02630 : 1|1 |
1|1HG02717 : 1|1 |
1|1HG02723 : 1|1 |
1|1HG02818 : 1|1 |
1|1HG02886 : 1|1 |
1|1HG03098 : 1|1 |
1|1HG03453 : 1|1 |
1|1HG03486 : 1|1 |
1|1HG03492 : 1|1 |
1|1HG03516 : 1|1 |
1|1HG03540 : 1|1 |
1|1HG03579 : 1|1 |
1|1NA18906 : 1|1 |
1|1NA20129 : 1|1 |
1|1NA21309 : 1|1 |
|
full=NAACMG_class : full=NA |
INSSV_type : INS SV_length : 107 |
splitAnnotation_mode : split |
IL12A-AS1Gene_name : IL12A-AS1; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 101928376 |
intron9-intron9Location : intron9-intron9 CytoBand : q25.33 Location2 : UTR Tx : NR_108088 Tx_version : 1 Tx_start : 159913399 Tx_end : 160207092 Exon_count : 10 Overlapped_tx_length : 1 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 25618 Nearest_SS_type : 5' Intersect_start : 159963477 Intersect_end : 159963478 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
CHM13,HG00438,HG00621,HG00673,HG00733,HG00735[...]Samples_ID : CHM13,HG00438,HG00621,HG00673,HG00733,HG00735,HG00741,HG01071,HG01106,HG01109,HG01123,HG01175,HG01243,HG01258,HG01358,HG01361,HG01891,HG01928,HG01952,HG01978,HG02055,HG02080,HG02109,HG02145,HG02148,HG02257,HG02486,HG02559,HG02572,HG02622,HG02630,HG02717,HG02723,HG02818,HG02886,HG03098,HG03453,HG03486,HG03492,HG03516,HG03540,HG03579,NA18906,NA20129,NA21309 |
>14060641>14060639ID : >14060641>14060639 |
GREF : G |
GTAGCTAGGACTGTGCCTGGCTAATTTTTTATTTTTTGTAGAGAC[...]ALT : GTAGCTAGGACTGTGCCTGGCTAATTTTTTATTTTTTGTAGAGACAGAGTCTCACTATGTTGCCCAGGCTGGCATAGTGAGACTCTGTCTCCACAAAAAATAAAAAAT |
60QUAL : 60 |
.FILTER : . |
AC=89; AF=1; AN=89; AT=>14060641>140606[...]INFO : AC=89; AF=1; AN=89; AT=>14060641>14060639,>14060641>14060640>14060639; LV=0; NS=45; e=159963478; s=107; rC=SINE/Alu |
GTFORMAT : GT |
1CHM13 : 1 |
1|1HG00438 : 1|1 |
1|1HG00621 : 1|1 |
1|1HG00673 : 1|1 |
1|1HG00733 : 1|1 |
1|1HG00735 : 1|1 |
1|1HG00741 : 1|1 |
1|1HG01071 : 1|1 |
1|1HG01106 : 1|1 |
1|1HG01109 : 1|1 |
1|1HG01123 : 1|1 |
1|1HG01175 : 1|1 |
1|1HG01243 : 1|1 |
1|1HG01258 : 1|1 |
1|1HG01358 : 1|1 |
1|1HG01361 : 1|1 |
1|1HG01891 : 1|1 |
1|1HG01928 : 1|1 |
1|1HG01952 : 1|1 |
1|1HG01978 : 1|1 |
1|1HG02055 : 1|1 |
1|1HG02080 : 1|1 |
1|1HG02109 : 1|1 |
1|1HG02145 : 1|1 |
1|1HG02148 : 1|1 |
1|1HG02257 : 1|1 |
1|1HG02486 : 1|1 |
1|1HG02559 : 1|1 |
1|1HG02572 : 1|1 |
1|1HG02622 : 1|1 |
1|1HG02630 : 1|1 |
1|1HG02717 : 1|1 |
1|1HG02723 : 1|1 |
1|1HG02818 : 1|1 |
1|1HG02886 : 1|1 |
1|1HG03098 : 1|1 |
1|1HG03453 : 1|1 |
1|1HG03486 : 1|1 |
1|1HG03492 : 1|1 |
1|1HG03516 : 1|1 |
1|1HG03540 : 1|1 |
1|1HG03579 : 1|1 |
1|1NA18906 : 1|1 |
1|1NA20129 : 1|1 |
1|1NA21309 : 1|1 |
|
NAACMG_class : NA AnnotSV_ranking_score : . AnnotSV_ranking_criteria : . |
INSSV_type : INS SV_length : 332 Gene_count : 1 |
fullAnnotation_mode : full |
LINC01565Gene_name : LINC01565; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : 98.74 ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . Closest_left : LOC90246 Closest_right : LOC124909430 |
.Location : . CytoBand : q21.3 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_gain_phen : . po_P_gain_hpo : . po_P_gain_source : dbVar:nssv15162889; dbVar:nssv15164144; dbVar:nssv15149891; nssv15151839; dbVar:nssv15148953; dbVar:nssv15148025; dbVar:nssv18330760 po_P_gain_coord : 3:18497-198221156; 3:19818-198111391; 3:20215-198125115; 3:93800621-145695381; 3:103426883-198110178; 3:116901462-172324502 po_P_gain_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00 po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15136463; dbVar:nssv17649862; dbVar:nssv17973750; dbVar:nssv17649942; dbVar:nssv15137137; dbVar:nssv15139157; dbVar:nssv17649941; dbVar:nssv17649912; dbVar:nssv16213977 po_P_loss_coord : 3:112620978-128734134; 3:120435342-128606144; 3:120646972-133746203; 3:123281154-129981157; 3:126797421-128946623; 3:127607946-133566661; 3:128170195-128847058; 3:128208870-137170481; 3:128481000-128912627 po_P_loss_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00 |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_gain_source : dbVar B_gain_coord : chr3:128572157-128603657; chr3:128574628-128574993 B_gain_AFmax : 0.01 B_loss_source : gnomAD-SV_v3_DEL_chr3_9b8d4286 B_loss_coord : chr3:11110259-145805573 B_loss_AFmax : 0.0446 po_B_gain_allG_source : . po_B_gain_allG_coord : . po_B_gain_someG_source : chr3:128574628-128574993 dbVar po_B_gain_someG_coord : chr3:128572157-128603657 dbVar po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : chr3:11110259-145805573 gnomAD-SV_v3_DEL_chr3_9b8d4286 |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 3:128574811-128575110 Repeat_type_left : AluJr Gap_left : . GC_content_left : 0.540 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 3:128574811-128575110 Repeat_type_right : AluJr Gap_right : . GC_content_right : 0.540 |
CHM13,HG03453Samples_ID : CHM13,HG03453 |
>15506756>15506758ID : >15506756>15506758 |
GREF : G |
GGAATGGCAGTGCATGCCTGTAGTCCCAGCTACTCAGGAGGCTGA[...]ALT : GGAATGGCAGTGCATGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGTGGAGCTTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGCGACAGAGAGAGACTCTGTCTCAAAAAAAAAAAGACAAAATAATTGTCTTTTAATGACTTTAAAAGACATTGAGGTGGGTGTGGGGCTCATGCCTGTAATCCCAGCAATTTGGGACGCCGAGGTGGGAGGATCACTTGAGCCCAGGAGTTTCAGACCAGCCCAGGCAACGTAGCAAGACCCCATCTCTACAAAAATGTTTAAAACCTAACCAG |
60QUAL : 60 |
.FILTER : . |
AC=1; AF=0.011236; AN=89; AT=>15506756>[...]INFO : AC=1; AF=0.011236; AN=89; AT=>15506756>15506758,>15506756>15506757>15506758; CONFLICT=HG03098; LV=0; NS=45; e=128574947; s=332; rC=SINE/Alu |
GTFORMAT : GT |
0CHM13 : 0 |
0|0HG00438 : 0|0 |
0|0HG00621 : 0|0 |
0|0HG00673 : 0|0 |
0|0HG00733 : 0|0 |
0|0HG00735 : 0|0 |
0|0HG00741 : 0|0 |
0|0HG01071 : 0|0 |
0|0HG01106 : 0|0 |
0|0HG01109 : 0|0 |
0|0HG01123 : 0|0 |
0|0HG01175 : 0|0 |
0|0HG01243 : 0|0 |
0|0HG01258 : 0|0 |
0|0HG01358 : 0|0 |
0|0HG01361 : 0|0 |
0|0HG01891 : 0|0 |
0|0HG01928 : 0|0 |
0|0HG01952 : 0|0 |
0|0HG01978 : 0|0 |
0|0HG02055 : 0|0 |
0|0HG02080 : 0|0 |
0|0HG02109 : 0|0 |
0|0HG02145 : 0|0 |
0|0HG02148 : 0|0 |
0|0HG02257 : 0|0 |
0|0HG02486 : 0|0 |
0|0HG02559 : 0|0 |
0|0HG02572 : 0|0 |
0|0HG02622 : 0|0 |
0|0HG02630 : 0|0 |
0|0HG02717 : 0|0 |
0|0HG02723 : 0|0 |
0|0HG02818 : 0|0 |
0|0HG02886 : 0|0 |
0|0HG03098 : 0|0 |
1|0HG03453 : 1|0 |
0|0HG03486 : 0|0 |
0|0HG03492 : 0|0 |
0|0HG03516 : 0|0 |
0|0HG03540 : 0|0 |
0|0HG03579 : 0|0 |
0|0NA18906 : 0|0 |
0|0NA20129 : 0|0 |
0|0NA21309 : 0|0 |
|
full=NAACMG_class : full=NA |
INSSV_type : INS SV_length : 332 |
splitAnnotation_mode : split |
LINC01565Gene_name : LINC01565; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : 98.74 ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 23434 |
intron2-intron2Location : intron2-intron2 CytoBand : q21.3 Location2 : UTR Tx : NR_125802 Tx_version : 1 Tx_start : 128571999 Tx_end : 128576086 Exon_count : 3 Overlapped_tx_length : 1 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 318 Nearest_SS_type : 5' Intersect_start : 128574946 Intersect_end : 128574947 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_gain_source : dbVar B_gain_coord : chr3:128572157-128603657; chr3:128574628-128574993 B_gain_AFmax : 0.01 B_loss_source : gnomAD-SV_v3_DEL_chr3_9b8d4286 B_loss_coord : chr3:11110259-145805573 B_loss_AFmax : 0.0446 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
CHM13,HG03453Samples_ID : CHM13,HG03453 |
>15506756>15506758ID : >15506756>15506758 |
GREF : G |
GGAATGGCAGTGCATGCCTGTAGTCCCAGCTACTCAGGAGGCTGA[...]ALT : GGAATGGCAGTGCATGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGTGGAGCTTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGCGACAGAGAGAGACTCTGTCTCAAAAAAAAAAAGACAAAATAATTGTCTTTTAATGACTTTAAAAGACATTGAGGTGGGTGTGGGGCTCATGCCTGTAATCCCAGCAATTTGGGACGCCGAGGTGGGAGGATCACTTGAGCCCAGGAGTTTCAGACCAGCCCAGGCAACGTAGCAAGACCCCATCTCTACAAAAATGTTTAAAACCTAACCAG |
60QUAL : 60 |
.FILTER : . |
AC=1; AF=0.011236; AN=89; AT=>15506756>[...]INFO : AC=1; AF=0.011236; AN=89; AT=>15506756>15506758,>15506756>15506757>15506758; CONFLICT=HG03098; LV=0; NS=45; e=128574947; s=332; rC=SINE/Alu |
GTFORMAT : GT |
0CHM13 : 0 |
0|0HG00438 : 0|0 |
0|0HG00621 : 0|0 |
0|0HG00673 : 0|0 |
0|0HG00733 : 0|0 |
0|0HG00735 : 0|0 |
0|0HG00741 : 0|0 |
0|0HG01071 : 0|0 |
0|0HG01106 : 0|0 |
0|0HG01109 : 0|0 |
0|0HG01123 : 0|0 |
0|0HG01175 : 0|0 |
0|0HG01243 : 0|0 |
0|0HG01258 : 0|0 |
0|0HG01358 : 0|0 |
0|0HG01361 : 0|0 |
0|0HG01891 : 0|0 |
0|0HG01928 : 0|0 |
0|0HG01952 : 0|0 |
0|0HG01978 : 0|0 |
0|0HG02055 : 0|0 |
0|0HG02080 : 0|0 |
0|0HG02109 : 0|0 |
0|0HG02145 : 0|0 |
0|0HG02148 : 0|0 |
0|0HG02257 : 0|0 |
0|0HG02486 : 0|0 |
0|0HG02559 : 0|0 |
0|0HG02572 : 0|0 |
0|0HG02622 : 0|0 |
0|0HG02630 : 0|0 |
0|0HG02717 : 0|0 |
0|0HG02723 : 0|0 |
0|0HG02818 : 0|0 |
0|0HG02886 : 0|0 |
0|0HG03098 : 0|0 |
1|0HG03453 : 1|0 |
0|0HG03486 : 0|0 |
0|0HG03492 : 0|0 |
0|0HG03516 : 0|0 |
0|0HG03540 : 0|0 |
0|0HG03579 : 0|0 |
0|0NA18906 : 0|0 |
0|0NA20129 : 0|0 |
0|0NA21309 : 0|0 |
|
NAACMG_class : NA AnnotSV_ranking_score : . AnnotSV_ranking_criteria : . |
INSSV_type : INS SV_length : 114 Gene_count : 1 |
fullAnnotation_mode : full |
LOC105374037Gene_name : LOC105374037; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . Closest_left : LOC105374036 Closest_right : LOC151760 |
.Location : . CytoBand : q13.13 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_gain_phen : . po_P_gain_hpo : . po_P_gain_source : dbVar:nssv15162889; dbVar:nssv15164144; dbVar:nssv15149891; nssv15151839; dbVar:nssv15148953; dbVar:nssv15148025; dbVar:nssv15146976 po_P_gain_coord : 3:18497-198221156; 3:19818-198111391; 3:20215-198125115; 3:93800621-145695381; 3:103426883-198110178; 3:104621221-116093884 po_P_gain_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00 po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15147282; dbVar:nssv15146259; dbVar:nssv18842017; dbVar:nssv15147452; dbVar:nssv15128639; dbVar:nssv16207911; dbVar:nssv15149305; dbVar:nssv17976878; dbVar:nssv18330718; dbVar:nssv15119835 po_P_loss_coord : 3:93819624-116887056; 3:93886672-123216683; 3:93979548-124774010; 3:97795370-115663349; 3:101431894-116529740; 3:102093402-112455638; 3:105375991-117723106; 3:106879921-115985849; 3:107340859-115286409; 3:108242573-116169331 po_P_loss_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00 |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_gain_source : dbVar B_gain_coord : chr3:110529680-111046402 B_gain_AFmax : 0.01 B_loss_source : dbVar; gnomAD-SV_v3_DEL_chr3_9b8d4286 B_loss_coord : chr3:11110259-145805573; chr3:108633893-111492183; chr3:110552035-110575458 B_loss_AFmax : 0.0446 po_B_gain_allG_source : . po_B_gain_allG_coord : . po_B_gain_someG_source : . po_B_gain_someG_coord : chr3:110529680-111046402 dbVar po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : chr3:108633893-111492183 dbVar; po_B_loss_someG_coord : chr3:11110259-145805573 gnomAD-SV_v3_DEL_chr3_9b8d4286; chr3:110552035-110575458 dbVar |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 3:110568206-110568822; 3:110568922-110569967 Repeat_type_left : L1MEf; L1MEf Gap_left : . GC_content_left : 0.280 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 3:110568206-110568822; 3:110568922-110569967 Repeat_type_right : L1MEf; L1MEf Gap_right : . GC_content_right : 0.280 |
CHM13,HG00621,HG00673,HG00741,HG01071,HG01109[...]Samples_ID : CHM13,HG00621,HG00673,HG00741,HG01071,HG01109,HG01175,HG01258,HG01358,HG01361,HG01928,HG01952,HG01978,HG02080,HG02148,HG02486,HG02723,HG03492,HG03579,NA18906,NA20129,NA21309 |
>13237643>13237640ID : >13237643>13237640 |
AREF : A |
AAAGTGGTAGAAAGCATCAGCCAGAAAATAAAAACATGAAAATAA[...]ALT : AAAGTGGTAGAAAGCATCAGCCAGAAAATAAAAACATGAAAATAAACAAAATGGAAATTCCAGAATAAAATTCTGAAATAAACATTTACTGGATTAACTTAGGGGCTAAAAGGAC |
60QUAL : 60 |
.FILTER : . |
AC=29; AF=0.325843; AN=89; AT=>13237643>[...]INFO : AC=29; AF=0.325843; AN=89; AT=>13237643>13237640,>13237643<13237642>13237641>13237640; LV=0; NS=45; e=110568919; s=114; rC=LINE/L1 |
GTFORMAT : GT |
1CHM13 : 1 |
0|0HG00438 : 0|0 |
0|1HG00621 : 0|1 |
0|1HG00673 : 0|1 |
0|0HG00733 : 0|0 |
0|0HG00735 : 0|0 |
0|1HG00741 : 0|1 |
0|1HG01071 : 0|1 |
0|0HG01106 : 0|0 |
1|0HG01109 : 1|0 |
0|0HG01123 : 0|0 |
1|1HG01175 : 1|1 |
0|0HG01243 : 0|0 |
1|1HG01258 : 1|1 |
0|1HG01358 : 0|1 |
1|1HG01361 : 1|1 |
0|0HG01891 : 0|0 |
1|1HG01928 : 1|1 |
1|0HG01952 : 1|0 |
1|1HG01978 : 1|1 |
0|0HG02055 : 0|0 |
1|1HG02080 : 1|1 |
0|0HG02109 : 0|0 |
0|0HG02145 : 0|0 |
1|0HG02148 : 1|0 |
0|0HG02257 : 0|0 |
1|0HG02486 : 1|0 |
0|0HG02559 : 0|0 |
0|0HG02572 : 0|0 |
0|0HG02622 : 0|0 |
0|0HG02630 : 0|0 |
0|0HG02717 : 0|0 |
0|1HG02723 : 0|1 |
0|0HG02818 : 0|0 |
0|0HG02886 : 0|0 |
0|0HG03098 : 0|0 |
0|0HG03453 : 0|0 |
0|0HG03486 : 0|0 |
1|1HG03492 : 1|1 |
0|0HG03516 : 0|0 |
0|0HG03540 : 0|0 |
0|1HG03579 : 0|1 |
0|1NA18906 : 0|1 |
0|1NA20129 : 0|1 |
0|1NA21309 : 0|1 |
|
full=NAACMG_class : full=NA |
INSSV_type : INS SV_length : 114 |
splitAnnotation_mode : split |
LOC105374037Gene_name : LOC105374037; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
intron3-intron3Location : intron3-intron3 CytoBand : q13.13 Location2 : UTR Tx : XR_924328 Tx_version : 3 Tx_start : 110554732 Tx_end : 110667293 Exon_count : 4 Overlapped_tx_length : 1 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 13969 Nearest_SS_type : 3' Intersect_start : 110568918 Intersect_end : 110568919 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_gain_source : dbVar B_gain_coord : chr3:110529680-111046402 B_gain_AFmax : 0.01 B_loss_source : dbVar; gnomAD-SV_v3_DEL_chr3_9b8d4286 B_loss_coord : chr3:11110259-145805573; chr3:108633893-111492183; chr3:110552035-110575458 B_loss_AFmax : 0.0446 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
CHM13,HG00621,HG00673,HG00741,HG01071,HG01109[...]Samples_ID : CHM13,HG00621,HG00673,HG00741,HG01071,HG01109,HG01175,HG01258,HG01358,HG01361,HG01928,HG01952,HG01978,HG02080,HG02148,HG02486,HG02723,HG03492,HG03579,NA18906,NA20129,NA21309 |
>13237643>13237640ID : >13237643>13237640 |
AREF : A |
AAAGTGGTAGAAAGCATCAGCCAGAAAATAAAAACATGAAAATAA[...]ALT : AAAGTGGTAGAAAGCATCAGCCAGAAAATAAAAACATGAAAATAAACAAAATGGAAATTCCAGAATAAAATTCTGAAATAAACATTTACTGGATTAACTTAGGGGCTAAAAGGAC |
60QUAL : 60 |
.FILTER : . |
AC=29; AF=0.325843; AN=89; AT=>13237643>[...]INFO : AC=29; AF=0.325843; AN=89; AT=>13237643>13237640,>13237643<13237642>13237641>13237640; LV=0; NS=45; e=110568919; s=114; rC=LINE/L1 |
GTFORMAT : GT |
1CHM13 : 1 |
0|0HG00438 : 0|0 |
0|1HG00621 : 0|1 |
0|1HG00673 : 0|1 |
0|0HG00733 : 0|0 |
0|0HG00735 : 0|0 |
0|1HG00741 : 0|1 |
0|1HG01071 : 0|1 |
0|0HG01106 : 0|0 |
1|0HG01109 : 1|0 |
0|0HG01123 : 0|0 |
1|1HG01175 : 1|1 |
0|0HG01243 : 0|0 |
1|1HG01258 : 1|1 |
0|1HG01358 : 0|1 |
1|1HG01361 : 1|1 |
0|0HG01891 : 0|0 |
1|1HG01928 : 1|1 |
1|0HG01952 : 1|0 |
1|1HG01978 : 1|1 |
0|0HG02055 : 0|0 |
1|1HG02080 : 1|1 |
0|0HG02109 : 0|0 |
0|0HG02145 : 0|0 |
1|0HG02148 : 1|0 |
0|0HG02257 : 0|0 |
1|0HG02486 : 1|0 |
0|0HG02559 : 0|0 |
0|0HG02572 : 0|0 |
0|0HG02622 : 0|0 |
0|0HG02630 : 0|0 |
0|0HG02717 : 0|0 |
0|1HG02723 : 0|1 |
0|0HG02818 : 0|0 |
0|0HG02886 : 0|0 |
0|0HG03098 : 0|0 |
0|0HG03453 : 0|0 |
0|0HG03486 : 0|0 |
1|1HG03492 : 1|1 |
0|0HG03516 : 0|0 |
0|0HG03540 : 0|0 |
0|1HG03579 : 0|1 |
0|1NA18906 : 0|1 |
0|1NA20129 : 0|1 |
0|1NA21309 : 0|1 |
|
NAACMG_class : NA AnnotSV_ranking_score : . AnnotSV_ranking_criteria : . |
INSSV_type : INS SV_length : 100 Gene_count : 1 |
fullAnnotation_mode : full |
LOC101928135Gene_name : LOC101928135; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . Closest_left : LOC124909365 Closest_right : ARPP21 |
.Location : . CytoBand : p22.3 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_gain_phen : . po_P_gain_hpo : . po_P_gain_source : dbVar:nssv15162889; dbVar:nssv15164144; dbVar:nssv17969828; dbVar:nssv15149909; dbVar:nssv15149891; nssv15151839; dbVar:nssv15146217; dbVar:nssv15148928; dbVar:nssv15133494; dbVar:nssv15152847; dbVar:nssv15146653 po_P_gain_coord : 3:18497-198221156; 3:19818-198111391; 3:20214-36668690; 3:20214-37417973; 3:20215-198125115; 3:52267-37148076; 3:53309-41381521; 3:11463329-38919543; 3:16884819-45208431; 3:33728407-40662451 po_P_gain_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00 po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv17971651; dbVar:nssv15119823; dbVar:nssv15133472 po_P_loss_coord : 3:16669459-41233779; 3:32322383-36775606; 3:33062200-36829440 po_P_loss_percent : 0.00; 0.00; 0.00 |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVar; gnomAD-SV_v3_DUP_chr3_18f79a26B_gain_source : dbVar; gnomAD-SV_v3_DUP_chr3_18f79a26 B_gain_coord : chr3:35207509-35207609; chr3:35207509-35207609 B_gain_AFmax : 0.0234 B_loss_source : esv2672333; gnomAD-SV_v3_DEL_chr3_74d6df2b; gnomAD-SV_v3_DEL_chr3_9b8d4286; gnomAD-SV_v3_DEL_chr3_cc5acaae B_loss_coord : chr3:11110259-145805573; chr3:16955864-54461038; 3:34907869-35229570; chr3:34907971-35229653 B_loss_AFmax : 0.1881 po_B_gain_allG_source : . po_B_gain_allG_coord : . po_B_gain_someG_source : chr3:35207509-35207609 gnomAD-SV_v3_DUP_chr3_18f79a26 po_B_gain_someG_coord : chr3:35207509-35207609 dbVar po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : chr3:16955864-54461038 gnomAD-SV_v3_DEL_chr3_74d6df2b; chr3:34907971-35229653 gnomAD-SV_v3_DEL_chr3_cc5acaae po_B_loss_someG_coord : chr3:11110259-145805573 gnomAD-SV_v3_DEL_chr3_9b8d4286; 3:34907869-35229570 esv2672333 |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 3:35207199-35207508; 3:35207509-35207595; 3:35207599-35209186 Repeat_type_left : AluY; L1MC; L1MDa Gap_left : . GC_content_left : 0.320 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 3:35207199-35207508; 3:35207509-35207595; 3:35207599-35209186 Repeat_type_right : AluY; L1MC; L1MDa Gap_right : . GC_content_right : 0.320 |
CHM13,HG01891,HG02109,HG02486,HG02886,HG03453[...]Samples_ID : CHM13,HG01891,HG02109,HG02486,HG02886,HG03453,HG03516 |
>15671227>15671229ID : >15671227>15671229 |
TREF : T |
TAATAGTTTCCTTCCTTGTAATGTCTCAGTATAGTTTTGGTACAA[...]ALT : TAATAGTTTCCTTCCTTGTAATGTCTCAGTATAGTTTTGGTACAAGGATGGTGCTGGCTTCAAAGAGTGAATTAGGATGTGTTCTCTCTTCCAATTACATT |
60QUAL : 60 |
.FILTER : . |
AC=6; AF=0.0674157; AN=89; AT=>15671227>[...]INFO : AC=6; AF=0.0674157; AN=89; AT=>15671227>15671229,>15671227>15671228>15671229; LV=0; NS=45; e=35207607; s=100; rC=LINE/L1 |
GTFORMAT : GT |
0CHM13 : 0 |
0|0HG00438 : 0|0 |
0|0HG00621 : 0|0 |
0|0HG00673 : 0|0 |
0|0HG00733 : 0|0 |
0|0HG00735 : 0|0 |
0|0HG00741 : 0|0 |
0|0HG01071 : 0|0 |
0|0HG01106 : 0|0 |
0|0HG01109 : 0|0 |
0|0HG01123 : 0|0 |
0|0HG01175 : 0|0 |
0|0HG01243 : 0|0 |
0|0HG01258 : 0|0 |
0|0HG01358 : 0|0 |
0|0HG01361 : 0|0 |
0|1HG01891 : 0|1 |
0|0HG01928 : 0|0 |
0|0HG01952 : 0|0 |
0|0HG01978 : 0|0 |
0|0HG02055 : 0|0 |
0|0HG02080 : 0|0 |
1|0HG02109 : 1|0 |
0|0HG02145 : 0|0 |
0|0HG02148 : 0|0 |
0|0HG02257 : 0|0 |
1|0HG02486 : 1|0 |
0|0HG02559 : 0|0 |
0|0HG02572 : 0|0 |
0|0HG02622 : 0|0 |
0|0HG02630 : 0|0 |
0|0HG02717 : 0|0 |
0|0HG02723 : 0|0 |
0|0HG02818 : 0|0 |
0|1HG02886 : 0|1 |
0|0HG03098 : 0|0 |
0|1HG03453 : 0|1 |
0|0HG03486 : 0|0 |
0|0HG03492 : 0|0 |
0|1HG03516 : 0|1 |
0|0HG03540 : 0|0 |
0|0HG03579 : 0|0 |
0|0NA18906 : 0|0 |
0|0NA20129 : 0|0 |
0|0NA21309 : 0|0 |
|
full=NAACMG_class : full=NA |
INSSV_type : INS SV_length : 100 |
splitAnnotation_mode : split |
LOC101928135Gene_name : LOC101928135; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
intron2-intron2Location : intron2-intron2 CytoBand : p22.3 Location2 : UTR Tx : NR_110817 Tx_version : 1 Tx_start : 34875794 Tx_end : 35394023 Exon_count : 4 Overlapped_tx_length : 1 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 98863 Nearest_SS_type : 5' Intersect_start : 35207606 Intersect_end : 35207607 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVar; gnomAD-SV_v3_DUP_chr3_18f79a26B_gain_source : dbVar; gnomAD-SV_v3_DUP_chr3_18f79a26 B_gain_coord : chr3:35207509-35207609; chr3:35207509-35207609 B_gain_AFmax : 0.0234 B_loss_source : esv2672333; gnomAD-SV_v3_DEL_chr3_74d6df2b; gnomAD-SV_v3_DEL_chr3_9b8d4286; gnomAD-SV_v3_DEL_chr3_cc5acaae B_loss_coord : chr3:11110259-145805573; chr3:16955864-54461038; 3:34907869-35229570; chr3:34907971-35229653 B_loss_AFmax : 0.1881 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
CHM13,HG01891,HG02109,HG02486,HG02886,HG03453[...]Samples_ID : CHM13,HG01891,HG02109,HG02486,HG02886,HG03453,HG03516 |
>15671227>15671229ID : >15671227>15671229 |
TREF : T |
TAATAGTTTCCTTCCTTGTAATGTCTCAGTATAGTTTTGGTACAA[...]ALT : TAATAGTTTCCTTCCTTGTAATGTCTCAGTATAGTTTTGGTACAAGGATGGTGCTGGCTTCAAAGAGTGAATTAGGATGTGTTCTCTCTTCCAATTACATT |
60QUAL : 60 |
.FILTER : . |
AC=6; AF=0.0674157; AN=89; AT=>15671227>[...]INFO : AC=6; AF=0.0674157; AN=89; AT=>15671227>15671229,>15671227>15671228>15671229; LV=0; NS=45; e=35207607; s=100; rC=LINE/L1 |
GTFORMAT : GT |
0CHM13 : 0 |
0|0HG00438 : 0|0 |
0|0HG00621 : 0|0 |
0|0HG00673 : 0|0 |
0|0HG00733 : 0|0 |
0|0HG00735 : 0|0 |
0|0HG00741 : 0|0 |
0|0HG01071 : 0|0 |
0|0HG01106 : 0|0 |
0|0HG01109 : 0|0 |
0|0HG01123 : 0|0 |
0|0HG01175 : 0|0 |
0|0HG01243 : 0|0 |
0|0HG01258 : 0|0 |
0|0HG01358 : 0|0 |
0|0HG01361 : 0|0 |
0|1HG01891 : 0|1 |
0|0HG01928 : 0|0 |
0|0HG01952 : 0|0 |
0|0HG01978 : 0|0 |
0|0HG02055 : 0|0 |
0|0HG02080 : 0|0 |
1|0HG02109 : 1|0 |
0|0HG02145 : 0|0 |
0|0HG02148 : 0|0 |
0|0HG02257 : 0|0 |
1|0HG02486 : 1|0 |
0|0HG02559 : 0|0 |
0|0HG02572 : 0|0 |
0|0HG02622 : 0|0 |
0|0HG02630 : 0|0 |
0|0HG02717 : 0|0 |
0|0HG02723 : 0|0 |
0|0HG02818 : 0|0 |
0|1HG02886 : 0|1 |
0|0HG03098 : 0|0 |
0|1HG03453 : 0|1 |
0|0HG03486 : 0|0 |
0|0HG03492 : 0|0 |
0|1HG03516 : 0|1 |
0|0HG03540 : 0|0 |
0|0HG03579 : 0|0 |
0|0NA18906 : 0|0 |
0|0NA20129 : 0|0 |
0|0NA21309 : 0|0 |
|
NAACMG_class : NA AnnotSV_ranking_score : . AnnotSV_ranking_criteria : . |
INSSV_type : INS SV_length : 192 Gene_count : 1 |
fullAnnotation_mode : full |
RFTN1Gene_name : RFTN1; LOEUF_bin : 5 GnomAD_pLI : 2.4248e-06 ExAC_pLI : 5.1390e-12 HI : . TS : . DDD_HI_percent : 61.2 ExAC_cnvZ : -1.04985386357587 ExAC_delZ : -2.62354415217069 ExAC_dupZ : 0.577513212122976 ExAC_synZ : 0.041452448018948 ExAC_misZ : -0.343746520172933 Closest_left : LOC124906220 Closest_right : LOC124906219 |
.Location : . CytoBand : p24.3 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_gain_phen : . po_P_gain_hpo : . po_P_gain_source : dbVar:nssv15162889; dbVar:nssv15164144; dbVar:nssv17969827; dbVar:nssv15151098; dbVar:nssv17969828; dbVar:nssv15149909; dbVar:nssv15149891; nssv15151839; dbVar:nssv15145877; dbVar:nssv15147393; dbVar:nssv15146217; dbVar:nssv15148928; dbVar:nssv15146372; dbVar:nssv15153450; dbVar:nssv15152843; dbVar:nssv15133494; dbVar:nssv15163762; dbVar:nssv18326445; dbVar:nssv15139669 po_P_gain_coord : 3:18497-198221156; 3:19818-198111391; 3:20214-24391330; 3:20214-33916709; 3:20214-36668690; 3:20214-37417973; 3:20215-198125115; 3:32242-20334387; 3:32242-30064208; 3:52267-37148076; 3:53309-41381521; 3:63844-19510600; 3:1856289-19477593; 3:5132186-16718755; 3:11463329-38919543; 3:13234506-24253749; 3:13794844-25315936; 3:14360748-21656134 po_P_gain_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00 po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv17976929; dbVar:nssv15142081 po_P_loss_coord : 3:13371738-20095506; 3:13678724-17766744 po_P_loss_percent : 0.00; 0.00 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . B_loss_source : gnomAD-SV_v3_DEL_chr3_9b8d4286 B_loss_coord : chr3:11110259-145805573 B_loss_AFmax : 0.0446 po_B_gain_allG_source : . po_B_gain_allG_coord : . po_B_gain_someG_source : . po_B_gain_someG_coord : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : chr3:11110259-145805573 gnomAD-SV_v3_DEL_chr3_9b8d4286 |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : 3:16453736-16465913 Repeat_coord_left : . Repeat_type_left : . Gap_left : . GC_content_left : 0.240 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : 3:16453736-16465913 Repeat_coord_right : . Repeat_type_right : . Gap_right : . GC_content_right : 0.240 |
CHM13,NA20129Samples_ID : CHM13,NA20129 |
>15189628>15189630ID : >15189628>15189630 |
AREF : A |
ATTAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGG[...]ALT : ATTAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAA |
60QUAL : 60 |
.FILTER : . |
AC=1; AF=0.011236; AN=89; AT=>15189628>[...]INFO : AC=1; AF=0.011236; AN=89; AT=>15189628>15189630,>15189628<15189629>15189630; LV=0; NS=45; e=16459763; s=192; rC=SINE/Alu |
GTFORMAT : GT |
0CHM13 : 0 |
0|0HG00438 : 0|0 |
0|0HG00621 : 0|0 |
0|0HG00673 : 0|0 |
0|0HG00733 : 0|0 |
0|0HG00735 : 0|0 |
0|0HG00741 : 0|0 |
0|0HG01071 : 0|0 |
0|0HG01106 : 0|0 |
0|0HG01109 : 0|0 |
0|0HG01123 : 0|0 |
0|0HG01175 : 0|0 |
0|0HG01243 : 0|0 |
0|0HG01258 : 0|0 |
0|0HG01358 : 0|0 |
0|0HG01361 : 0|0 |
0|0HG01891 : 0|0 |
0|0HG01928 : 0|0 |
0|0HG01952 : 0|0 |
0|0HG01978 : 0|0 |
0|0HG02055 : 0|0 |
0|0HG02080 : 0|0 |
0|0HG02109 : 0|0 |
0|0HG02145 : 0|0 |
0|0HG02148 : 0|0 |
0|0HG02257 : 0|0 |
0|0HG02486 : 0|0 |
0|0HG02559 : 0|0 |
0|0HG02572 : 0|0 |
0|0HG02622 : 0|0 |
0|0HG02630 : 0|0 |
0|0HG02717 : 0|0 |
0|0HG02723 : 0|0 |
0|0HG02818 : 0|0 |
0|0HG02886 : 0|0 |
0|0HG03098 : 0|0 |
0|0HG03453 : 0|0 |
0|0HG03486 : 0|0 |
0|0HG03492 : 0|0 |
0|0HG03516 : 0|0 |
0|0HG03540 : 0|0 |
0|0HG03579 : 0|0 |
0|0NA18906 : 0|0 |
1|0NA20129 : 1|0 |
0|0NA21309 : 0|0 |
|
full=NAACMG_class : full=NA |
INSSV_type : INS SV_length : 192 |
splitAnnotation_mode : split |
RFTN1Gene_name : RFTN1; LOEUF_bin : 5 GnomAD_pLI : 2.4248e-06 ExAC_pLI : 5.1390e-12 HI : . TS : . DDD_HI_percent : 61.2 ACMG : . ExAC_cnvZ : -1.04985386357587 ExAC_delZ : -2.62354415217069 ExAC_dupZ : 0.577513212122976 ExAC_synZ : 0.041452448018948 ExAC_misZ : -0.343746520172933 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 23180 |
intron2-intron2Location : intron2-intron2 CytoBand : p24.3 Location2 : CDS Tx : XM_047447779 Tx_version : 1 Tx_start : 16315844 Tx_end : 16472794 Exon_count : 10 Overlapped_tx_length : 1 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 12197 Nearest_SS_type : 5' Intersect_start : 16459762 Intersect_end : 16459763 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . B_loss_source : gnomAD-SV_v3_DEL_chr3_9b8d4286 B_loss_coord : chr3:11110259-145805573 B_loss_AFmax : 0.0446 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
CHM13,NA20129Samples_ID : CHM13,NA20129 |
>15189628>15189630ID : >15189628>15189630 |
AREF : A |
ATTAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGG[...]ALT : ATTAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAA |
60QUAL : 60 |
.FILTER : . |
AC=1; AF=0.011236; AN=89; AT=>15189628>[...]INFO : AC=1; AF=0.011236; AN=89; AT=>15189628>15189630,>15189628<15189629>15189630; LV=0; NS=45; e=16459763; s=192; rC=SINE/Alu |
GTFORMAT : GT |
0CHM13 : 0 |
0|0HG00438 : 0|0 |
0|0HG00621 : 0|0 |
0|0HG00673 : 0|0 |
0|0HG00733 : 0|0 |
0|0HG00735 : 0|0 |
0|0HG00741 : 0|0 |
0|0HG01071 : 0|0 |
0|0HG01106 : 0|0 |
0|0HG01109 : 0|0 |
0|0HG01123 : 0|0 |
0|0HG01175 : 0|0 |
0|0HG01243 : 0|0 |
0|0HG01258 : 0|0 |
0|0HG01358 : 0|0 |
0|0HG01361 : 0|0 |
0|0HG01891 : 0|0 |
0|0HG01928 : 0|0 |
0|0HG01952 : 0|0 |
0|0HG01978 : 0|0 |
0|0HG02055 : 0|0 |
0|0HG02080 : 0|0 |
0|0HG02109 : 0|0 |
0|0HG02145 : 0|0 |
0|0HG02148 : 0|0 |
0|0HG02257 : 0|0 |
0|0HG02486 : 0|0 |
0|0HG02559 : 0|0 |
0|0HG02572 : 0|0 |
0|0HG02622 : 0|0 |
0|0HG02630 : 0|0 |
0|0HG02717 : 0|0 |
0|0HG02723 : 0|0 |
0|0HG02818 : 0|0 |
0|0HG02886 : 0|0 |
0|0HG03098 : 0|0 |
0|0HG03453 : 0|0 |
0|0HG03486 : 0|0 |
0|0HG03492 : 0|0 |
0|0HG03516 : 0|0 |
0|0HG03540 : 0|0 |
0|0HG03579 : 0|0 |
0|0NA18906 : 0|0 |
1|0NA20129 : 1|0 |
0|0NA21309 : 0|0 |
|
NAACMG_class : NA AnnotSV_ranking_score : . AnnotSV_ranking_criteria : . |
INSSV_type : INS SV_length : 332 Gene_count : 1 |
fullAnnotation_mode : full |
PLCL1Gene_name : PLCL1; LOEUF_bin : 2 GnomAD_pLI : 1.2059e-02 ExAC_pLI : 1.1052e-02 HI : . TS : . DDD_HI_percent : 27.49 ExAC_cnvZ : 1.3489127128269 ExAC_delZ : 1.06845873118958 ExAC_dupZ : 1.06965476140811 ExAC_synZ : -0.315502596512338 ExAC_misZ : 1.24610427393788 Closest_left : LOC105373828 Closest_right : LINC01923 |
.Location : . CytoBand : q33.1 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_gain_phen : . po_P_gain_hpo : . po_P_gain_source : dbVar:nssv17976961; dbVar:nssv15161685; nssv15161863; dbVar:nssv15174359; dbVar:nssv15174602; dbVar:nssv16207855; dbVar:nssv17969793; dbVar:nssv16254741; dbVar:nssv15147432; dbVar:nssv18842075; dbVar:nssv15755802; dbVar:nssv15147151; dbVar:nssv15148951; dbVar:nssv15145778; dbVar:nssv15145678 po_P_gain_coord : 2:10002-242157305; 2:12772-241841232; 2:14239-242106609; 2:15673-242157305; 2:162376653-211062464; 2:168973465-214656712; 2:177533232-242065306; 2:180513794-224302848; 2:185833778-223053393; 2:188062202-224433936; 2:188818196-242065208; 2:189436150-241841232; 2:190310737-241892770; 2:194898784-236473913 po_P_gain_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00 po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15124851; dbVar:nssv15146209; dbVar:nssv15146426; dbVar:nssv15133598; dbVar:nssv17976941; dbVar:nssv15133754; dbVar:nssv18330771; dbVar:nssv15162684; dbVar:nssv18330068; dbVar:nssv16252261; dbVar:nssv15152822; dbVar:nssv15152716; dbVar:nssv15145974; dbVar:nssv15141794; dbVar:nssv15132676; dbVar:nssv15776705; dbVar:nssv15142564; dbVar:nssv15148041; dbVar:nssv15124134; dbVar:nssv16296948; dbVar:nssv17969800; dbVar:nssv15138416; dbVar:nssv15147306 po_P_loss_coord : 2:50659295-242160331; 2:174898849-203941548; 2:176304446-202039790; 2:177874071-198525492; 2:184832933-212137349; 2:186027473-201059372; 2:186288028-199095802; 2:188625764-199750773; 2:189045179-208603658; 2:189480547-199347566; 2:190885477-201432653; 2:192673202-201163013; 2:192938827-215705052; 2:193716592-200887699; 2:194515160-198545937; 2:194922000-199666404; 2:195368552-200214331; 2:195660595-203969488; 2:195716654-200082318; 2:196494301-200518739; 2:196721758-199929147; 2:197125461-199741748; 2:197400024-202089348 po_P_loss_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . B_loss_source : DDD:8464; dbVar; gnomAD-SV_v3_DEL_chr2_98935ad0; gnomAD-SV_v3_DEL_chr2_d8522047 B_loss_coord : chr2:148424217-233186659; chr2:197893260-197897841; 2:197893672-197896915; chr2:197893672-197896915; chr2:197893672-197896915 B_loss_AFmax : 0.0174 po_B_gain_allG_source : . po_B_gain_allG_coord : . po_B_gain_someG_source : . po_B_gain_someG_coord : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : chr2:197893260-197897841 dbVar; chr2:197893672-197896915 dbVar; po_B_loss_someG_coord : chr2:148424217-233186659 gnomAD-SV_v3_DEL_chr2_d8522047; 2:197893672-197896915 DDD:8464; chr2:197893672-197896915 gnomAD-SV_v3_DEL_chr2_98935ad0 |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : . Repeat_type_left : . Gap_left : . GC_content_left : 0.355 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : . Repeat_type_right : . Gap_right : . GC_content_right : 0.355 |
CHM13,HG02886Samples_ID : CHM13,HG02886 |
>11316699>11316701ID : >11316699>11316701 |
TREF : T |
TAAAATTACGCTCTGCCGGGCGCGGTGGCTCACGCCTGTAATCCC[...]ALT : TAAAATTACGCTCTGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTACAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA |
60QUAL : 60 |
.FILTER : . |
AC=1; AF=0.011236; AN=89; AT=>11316699>[...]INFO : AC=1; AF=0.011236; AN=89; AT=>11316699>11316701,>11316699>11316700>11316701; LV=0; NS=45; e=197896909; s=332; rC=SINE/Alu |
GTFORMAT : GT |
0CHM13 : 0 |
0|0HG00438 : 0|0 |
0|0HG00621 : 0|0 |
0|0HG00673 : 0|0 |
0|0HG00733 : 0|0 |
0|0HG00735 : 0|0 |
0|0HG00741 : 0|0 |
0|0HG01071 : 0|0 |
0|0HG01106 : 0|0 |
0|0HG01109 : 0|0 |
0|0HG01123 : 0|0 |
0|0HG01175 : 0|0 |
0|0HG01243 : 0|0 |
0|0HG01258 : 0|0 |
0|0HG01358 : 0|0 |
0|0HG01361 : 0|0 |
0|0HG01891 : 0|0 |
0|0HG01928 : 0|0 |
0|0HG01952 : 0|0 |
0|0HG01978 : 0|0 |
0|0HG02055 : 0|0 |
0|0HG02080 : 0|0 |
0|0HG02109 : 0|0 |
0|0HG02145 : 0|0 |
0|0HG02148 : 0|0 |
0|0HG02257 : 0|0 |
0|0HG02486 : 0|0 |
0|0HG02559 : 0|0 |
0|0HG02572 : 0|0 |
0|0HG02622 : 0|0 |
0|0HG02630 : 0|0 |
0|0HG02717 : 0|0 |
0|0HG02723 : 0|0 |
0|0HG02818 : 0|0 |
0|1HG02886 : 0|1 |
0|0HG03098 : 0|0 |
0|0HG03453 : 0|0 |
0|0HG03486 : 0|0 |
0|0HG03492 : 0|0 |
0|0HG03516 : 0|0 |
0|0HG03540 : 0|0 |
0|0HG03579 : 0|0 |
0|0NA18906 : 0|0 |
0|0NA20129 : 0|0 |
0|0NA21309 : 0|0 |
|
full=NAACMG_class : full=NA |
INSSV_type : INS SV_length : 332 |
splitAnnotation_mode : split |
PLCL1Gene_name : PLCL1; LOEUF_bin : 2 GnomAD_pLI : 1.2059e-02 ExAC_pLI : 1.1052e-02 HI : . TS : . DDD_HI_percent : 27.49 ACMG : . ExAC_cnvZ : 1.3489127128269 ExAC_delZ : 1.06845873118958 ExAC_dupZ : 1.06965476140811 ExAC_synZ : -0.315502596512338 ExAC_misZ : 1.24610427393788 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 5334 |
intron1-intron1Location : intron1-intron1 CytoBand : q33.1 Location2 : CDS Tx : NM_006226 Tx_version : 4 Tx_start : 197804592 Tx_end : 198149863 Exon_count : 6 Overlapped_tx_length : 1 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 91569 Nearest_SS_type : 5' Intersect_start : 197896908 Intersect_end : 197896909 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . B_loss_source : DDD:8464; dbVar; gnomAD-SV_v3_DEL_chr2_98935ad0; gnomAD-SV_v3_DEL_chr2_d8522047 B_loss_coord : chr2:148424217-233186659; chr2:197893260-197897841; 2:197893672-197896915; chr2:197893672-197896915; chr2:197893672-197896915 B_loss_AFmax : 0.0174 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
CHM13,HG02886Samples_ID : CHM13,HG02886 |
>11316699>11316701ID : >11316699>11316701 |
TREF : T |
TAAAATTACGCTCTGCCGGGCGCGGTGGCTCACGCCTGTAATCCC[...]ALT : TAAAATTACGCTCTGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTACAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA |
60QUAL : 60 |
.FILTER : . |
AC=1; AF=0.011236; AN=89; AT=>11316699>[...]INFO : AC=1; AF=0.011236; AN=89; AT=>11316699>11316701,>11316699>11316700>11316701; LV=0; NS=45; e=197896909; s=332; rC=SINE/Alu |
GTFORMAT : GT |
0CHM13 : 0 |
0|0HG00438 : 0|0 |
0|0HG00621 : 0|0 |
0|0HG00673 : 0|0 |
0|0HG00733 : 0|0 |
0|0HG00735 : 0|0 |
0|0HG00741 : 0|0 |
0|0HG01071 : 0|0 |
0|0HG01106 : 0|0 |
0|0HG01109 : 0|0 |
0|0HG01123 : 0|0 |
0|0HG01175 : 0|0 |
0|0HG01243 : 0|0 |
0|0HG01258 : 0|0 |
0|0HG01358 : 0|0 |
0|0HG01361 : 0|0 |
0|0HG01891 : 0|0 |
0|0HG01928 : 0|0 |
0|0HG01952 : 0|0 |
0|0HG01978 : 0|0 |
0|0HG02055 : 0|0 |
0|0HG02080 : 0|0 |
0|0HG02109 : 0|0 |
0|0HG02145 : 0|0 |
0|0HG02148 : 0|0 |
0|0HG02257 : 0|0 |
0|0HG02486 : 0|0 |
0|0HG02559 : 0|0 |
0|0HG02572 : 0|0 |
0|0HG02622 : 0|0 |
0|0HG02630 : 0|0 |
0|0HG02717 : 0|0 |
0|0HG02723 : 0|0 |
0|0HG02818 : 0|0 |
0|1HG02886 : 0|1 |
0|0HG03098 : 0|0 |
0|0HG03453 : 0|0 |
0|0HG03486 : 0|0 |
0|0HG03492 : 0|0 |
0|0HG03516 : 0|0 |
0|0HG03540 : 0|0 |
0|0HG03579 : 0|0 |
0|0NA18906 : 0|0 |
0|0NA20129 : 0|0 |
0|0NA21309 : 0|0 |
|
NAACMG_class : NA AnnotSV_ranking_score : . AnnotSV_ranking_criteria : . |
INSSV_type : INS SV_length : 210 Gene_count : 1 |
fullAnnotation_mode : full |
LINC01885Gene_name : LINC01885; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . Closest_left : LINC01789 Closest_right : LINC01886 |
.Location : . CytoBand : q12.3 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_gain_phen : . po_P_gain_hpo : . po_P_gain_source : dbVar:nssv17976961; dbVar:nssv15161685; nssv15161863; dbVar:nssv15174359; dbVar:nssv15174602; dbVar:nssv15148156; dbVar:nssv15149422; dbVar:nssv15152720; dbVar:nssv15147149; dbVar:nssv15146324; dbVar:nssv15147463; dbVar:nssv15151697 po_P_gain_coord : 2:10002-242157305; 2:12772-241841232; 2:14239-242106609; 2:15673-242157305; 2:94678533-110602409; 2:94863295-107901810; 2:95687283-113287886; 2:97672523-110211318; 2:100378511-108472871; 2:101710826-110791418; 2:106479968-111478150 po_P_gain_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00 po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv18326420; dbVar:nssv15155128; dbVar:nssv15124851; dbVar:nssv15146967; dbVar:nssv17956361; dbVar:nssv15152708; dbVar:nssv16254438; dbVar:nssv15160827 po_P_loss_coord : 2:11364193-110608419; 2:40379903-146145196; 2:50659295-242160331; 2:105806854-114297251; 2:106404327-109451929; 2:106404327-110608419; 2:106413225-112430165; 2:106445029-107839483 po_P_loss_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00 |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_gain_source : dbVar B_gain_coord : chr2:107069940-107427059; chr2:107278045-108189618; chr2:107365165-107424514 B_gain_AFmax : 0.01 B_loss_source : dbVar; gnomAD-SV_v3_DEL_chr2_8881e883 B_loss_coord : chr2:106014408-123234450; chr2:106244543-107911544; chr2:107365165-107424514 B_loss_AFmax : 0.2151 po_B_gain_allG_source : . po_B_gain_allG_coord : . po_B_gain_someG_source : chr2:107278045-108189618 dbVar; po_B_gain_someG_coord : chr2:107069940-107427059 dbVar; chr2:107365165-107424514 dbVar po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : chr2:106244543-107911544 dbVar; po_B_loss_someG_coord : chr2:106014408-123234450 gnomAD-SV_v3_DEL_chr2_8881e883; chr2:107365165-107424514 dbVar |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 2:107417209-107417632 Repeat_type_left : L2b Gap_left : . GC_content_left : 0.385 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 2:107417209-107417632 Repeat_type_right : L2b Gap_right : . GC_content_right : 0.385 |
CHM13,HG02145Samples_ID : CHM13,HG02145 |
>9691118>9691120ID : >9691118>9691120 |
GREF : G |
GCTCTACTAAAAATACAAAAAATCAGCCGGGCGCGGTGGCGGGCG[...]ALT : GCTCTACTAAAAATACAAAAAATCAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCAGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAG |
60QUAL : 60 |
.FILTER : . |
AC=1; AF=0.011236; AN=89; AT=>9691118>9[...]INFO : AC=1; AF=0.011236; AN=89; AT=>9691118>9691120,>9691118<9691119>9691120; LV=0; NS=45; e=107417308; s=210; rC=SINE/Alu |
GTFORMAT : GT |
0CHM13 : 0 |
0|0HG00438 : 0|0 |
0|0HG00621 : 0|0 |
0|0HG00673 : 0|0 |
0|0HG00733 : 0|0 |
0|0HG00735 : 0|0 |
0|0HG00741 : 0|0 |
0|0HG01071 : 0|0 |
0|0HG01106 : 0|0 |
0|0HG01109 : 0|0 |
0|0HG01123 : 0|0 |
0|0HG01175 : 0|0 |
0|0HG01243 : 0|0 |
0|0HG01258 : 0|0 |
0|0HG01358 : 0|0 |
0|0HG01361 : 0|0 |
0|0HG01891 : 0|0 |
0|0HG01928 : 0|0 |
0|0HG01952 : 0|0 |
0|0HG01978 : 0|0 |
0|0HG02055 : 0|0 |
0|0HG02080 : 0|0 |
0|0HG02109 : 0|0 |
0|1HG02145 : 0|1 |
0|0HG02148 : 0|0 |
0|0HG02257 : 0|0 |
0|0HG02486 : 0|0 |
0|0HG02559 : 0|0 |
0|0HG02572 : 0|0 |
0|0HG02622 : 0|0 |
0|0HG02630 : 0|0 |
0|0HG02717 : 0|0 |
0|0HG02723 : 0|0 |
0|0HG02818 : 0|0 |
0|0HG02886 : 0|0 |
0|0HG03098 : 0|0 |
0|0HG03453 : 0|0 |
0|0HG03486 : 0|0 |
0|0HG03492 : 0|0 |
0|0HG03516 : 0|0 |
0|0HG03540 : 0|0 |
0|0HG03579 : 0|0 |
0|0NA18906 : 0|0 |
0|0NA20129 : 0|0 |
0|0NA21309 : 0|0 |
|
full=NAACMG_class : full=NA |
INSSV_type : INS SV_length : 210 |
splitAnnotation_mode : split |
LINC01885Gene_name : LINC01885; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 105373538 |
intron2-intron2Location : intron2-intron2 CytoBand : q12.3 Location2 : UTR Tx : NR_183423 Tx_version : 1 Tx_start : 107382687 Tx_end : 107542571 Exon_count : 6 Overlapped_tx_length : 1 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 524 Nearest_SS_type : 3' Intersect_start : 107417307 Intersect_end : 107417308 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_gain_source : dbVar B_gain_coord : chr2:107069940-107427059; chr2:107278045-108189618; chr2:107365165-107424514 B_gain_AFmax : 0.01 B_loss_source : dbVar; gnomAD-SV_v3_DEL_chr2_8881e883 B_loss_coord : chr2:106014408-123234450; chr2:106244543-107911544; chr2:107365165-107424514 B_loss_AFmax : 0.2151 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
CHM13,HG02145Samples_ID : CHM13,HG02145 |
>9691118>9691120ID : >9691118>9691120 |
GREF : G |
GCTCTACTAAAAATACAAAAAATCAGCCGGGCGCGGTGGCGGGCG[...]ALT : GCTCTACTAAAAATACAAAAAATCAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCAGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAG |
60QUAL : 60 |
.FILTER : . |
AC=1; AF=0.011236; AN=89; AT=>9691118>9[...]INFO : AC=1; AF=0.011236; AN=89; AT=>9691118>9691120,>9691118<9691119>9691120; LV=0; NS=45; e=107417308; s=210; rC=SINE/Alu |
GTFORMAT : GT |
0CHM13 : 0 |
0|0HG00438 : 0|0 |
0|0HG00621 : 0|0 |
0|0HG00673 : 0|0 |
0|0HG00733 : 0|0 |
0|0HG00735 : 0|0 |
0|0HG00741 : 0|0 |
0|0HG01071 : 0|0 |
0|0HG01106 : 0|0 |
0|0HG01109 : 0|0 |
0|0HG01123 : 0|0 |
0|0HG01175 : 0|0 |
0|0HG01243 : 0|0 |
0|0HG01258 : 0|0 |
0|0HG01358 : 0|0 |
0|0HG01361 : 0|0 |
0|0HG01891 : 0|0 |
0|0HG01928 : 0|0 |
0|0HG01952 : 0|0 |
0|0HG01978 : 0|0 |
0|0HG02055 : 0|0 |
0|0HG02080 : 0|0 |
0|0HG02109 : 0|0 |
0|1HG02145 : 0|1 |
0|0HG02148 : 0|0 |
0|0HG02257 : 0|0 |
0|0HG02486 : 0|0 |
0|0HG02559 : 0|0 |
0|0HG02572 : 0|0 |
0|0HG02622 : 0|0 |
0|0HG02630 : 0|0 |
0|0HG02717 : 0|0 |
0|0HG02723 : 0|0 |
0|0HG02818 : 0|0 |
0|0HG02886 : 0|0 |
0|0HG03098 : 0|0 |
0|0HG03453 : 0|0 |
0|0HG03486 : 0|0 |
0|0HG03492 : 0|0 |
0|0HG03516 : 0|0 |
0|0HG03540 : 0|0 |
0|0HG03579 : 0|0 |
0|0NA18906 : 0|0 |
0|0NA20129 : 0|0 |
0|0NA21309 : 0|0 |
|
NAACMG_class : NA AnnotSV_ranking_score : . AnnotSV_ranking_criteria : . |
INSSV_type : INS SV_length : 329 Gene_count : 1 |
fullAnnotation_mode : full |
LINC01364Gene_name : LINC01364; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . Closest_left : LMO4 Closest_right : LOC105378833 |
.Location : . CytoBand : p22.3 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_gain_phen : . po_P_gain_hpo : . po_P_gain_source : dbVar:nssv15156967; dbVar:nssv15156970; dbVar:nssv15149867; nssv15151118; dbVar:nssv16255170; dbVar:nssv15148057 po_P_gain_coord : 1:47852-248934250; 1:82155-248924793; 1:914088-248930485; 1:80338818-89024701; 1:83457326-104273917 po_P_gain_percent : 0.00; 0.00; 0.00; 0.00; 0.00 po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15143555; dbVar:nssv17969920; dbVar:nssv15149488; dbVar:nssv15136913 po_P_loss_coord : 1:63855594-87687986; 1:67714611-92266400; 1:71578862-92039534; 1:76419303-88628464 po_P_loss_percent : 0.00; 0.00; 0.00; 0.00 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . B_loss_source : gnomAD-SV_v3_DEL_chr1_cf5f2df8 B_loss_coord : chr1:13203398-167621949 B_loss_AFmax : 0.1676 po_B_gain_allG_source : . po_B_gain_allG_coord : . po_B_gain_someG_source : . po_B_gain_someG_coord : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : chr1:13203398-167621949 gnomAD-SV_v3_DEL_chr1_cf5f2df8 |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 1:87359029-87359204 Repeat_type_left : MIR3 Gap_left : . GC_content_left : 0.400 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 1:87359029-87359204 Repeat_type_right : MIR3 Gap_right : . GC_content_right : 0.395 |
CHM13,HG02622,HG03486Samples_ID : CHM13,HG02622,HG03486 |
>980793>980795ID : >980793>980795 |
AREF : A |
AGAATCACCACGTCGGCCGGGCGCGGTGGCTCACGCCTGTAATCC[...]ALT : AGAATCACCACGTCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAA |
60QUAL : 60 |
.FILTER : . |
AC=2; AF=0.0224719; AN=89; AT=>980793>9[...]INFO : AC=2; AF=0.0224719; AN=89; AT=>980793>980795,>980793>980794>980795; LV=0; NS=45; e=87359228; s=329; rC=SINE/Alu |
GTFORMAT : GT |
0CHM13 : 0 |
0|0HG00438 : 0|0 |
0|0HG00621 : 0|0 |
0|0HG00673 : 0|0 |
0|0HG00733 : 0|0 |
0|0HG00735 : 0|0 |
0|0HG00741 : 0|0 |
0|0HG01071 : 0|0 |
0|0HG01106 : 0|0 |
0|0HG01109 : 0|0 |
0|0HG01123 : 0|0 |
0|0HG01175 : 0|0 |
0|0HG01243 : 0|0 |
0|0HG01258 : 0|0 |
0|0HG01358 : 0|0 |
0|0HG01361 : 0|0 |
0|0HG01891 : 0|0 |
0|0HG01928 : 0|0 |
0|0HG01952 : 0|0 |
0|0HG01978 : 0|0 |
0|0HG02055 : 0|0 |
0|0HG02080 : 0|0 |
0|0HG02109 : 0|0 |
0|0HG02145 : 0|0 |
0|0HG02148 : 0|0 |
0|0HG02257 : 0|0 |
0|0HG02486 : 0|0 |
0|0HG02559 : 0|0 |
0|0HG02572 : 0|0 |
1|0HG02622 : 1|0 |
0|0HG02630 : 0|0 |
0|0HG02717 : 0|0 |
0|0HG02723 : 0|0 |
0|0HG02818 : 0|0 |
0|0HG02886 : 0|0 |
0|0HG03098 : 0|0 |
0|0HG03453 : 0|0 |
1|0HG03486 : 1|0 |
0|0HG03492 : 0|0 |
0|0HG03516 : 0|0 |
0|0HG03540 : 0|0 |
0|0HG03579 : 0|0 |
0|0NA18906 : 0|0 |
0|0NA20129 : 0|0 |
0|0NA21309 : 0|0 |
|
full=NAACMG_class : full=NA |
INSSV_type : INS SV_length : 329 |
splitAnnotation_mode : split |
LINC01364Gene_name : LINC01364; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 100505768 |
intron1-intron1Location : intron1-intron1 CytoBand : p22.3 Location2 : UTR Tx : NR_038324 Tx_version : 1 Tx_start : 87353523 Tx_end : 87371655 Exon_count : 4 Overlapped_tx_length : 1 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 1549 Nearest_SS_type : 3' Intersect_start : 87359227 Intersect_end : 87359228 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . B_loss_source : gnomAD-SV_v3_DEL_chr1_cf5f2df8 B_loss_coord : chr1:13203398-167621949 B_loss_AFmax : 0.1676 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
CHM13,HG02622,HG03486Samples_ID : CHM13,HG02622,HG03486 |
>980793>980795ID : >980793>980795 |
AREF : A |
AGAATCACCACGTCGGCCGGGCGCGGTGGCTCACGCCTGTAATCC[...]ALT : AGAATCACCACGTCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAA |
60QUAL : 60 |
.FILTER : . |
AC=2; AF=0.0224719; AN=89; AT=>980793>9[...]INFO : AC=2; AF=0.0224719; AN=89; AT=>980793>980795,>980793>980794>980795; LV=0; NS=45; e=87359228; s=329; rC=SINE/Alu |
GTFORMAT : GT |
0CHM13 : 0 |
0|0HG00438 : 0|0 |
0|0HG00621 : 0|0 |
0|0HG00673 : 0|0 |
0|0HG00733 : 0|0 |
0|0HG00735 : 0|0 |
0|0HG00741 : 0|0 |
0|0HG01071 : 0|0 |
0|0HG01106 : 0|0 |
0|0HG01109 : 0|0 |
0|0HG01123 : 0|0 |
0|0HG01175 : 0|0 |
0|0HG01243 : 0|0 |
0|0HG01258 : 0|0 |
0|0HG01358 : 0|0 |
0|0HG01361 : 0|0 |
0|0HG01891 : 0|0 |
0|0HG01928 : 0|0 |
0|0HG01952 : 0|0 |
0|0HG01978 : 0|0 |
0|0HG02055 : 0|0 |
0|0HG02080 : 0|0 |
0|0HG02109 : 0|0 |
0|0HG02145 : 0|0 |
0|0HG02148 : 0|0 |
0|0HG02257 : 0|0 |
0|0HG02486 : 0|0 |
0|0HG02559 : 0|0 |
0|0HG02572 : 0|0 |
1|0HG02622 : 1|0 |
0|0HG02630 : 0|0 |
0|0HG02717 : 0|0 |
0|0HG02723 : 0|0 |
0|0HG02818 : 0|0 |
0|0HG02886 : 0|0 |
0|0HG03098 : 0|0 |
0|0HG03453 : 0|0 |
1|0HG03486 : 1|0 |
0|0HG03492 : 0|0 |
0|0HG03516 : 0|0 |
0|0HG03540 : 0|0 |
0|0HG03579 : 0|0 |
0|0NA18906 : 0|0 |
0|0NA20129 : 0|0 |
0|0NA21309 : 0|0 |
|
NAACMG_class : NA AnnotSV_ranking_score : . AnnotSV_ranking_criteria : . |
INSSV_type : INS SV_length : 317 Gene_count : 1 |
fullAnnotation_mode : full |
HIVEP3Gene_name : HIVEP3; LOEUF_bin : 1 GnomAD_pLI : 9.0584e-01 ExAC_pLI : 3.0811e-02 HI : 1 TS : . DDD_HI_percent : 41.45 ExAC_cnvZ : 0.740013779683848 ExAC_delZ : 0.390621934115917 ExAC_dupZ : 0.623059658099196 ExAC_synZ : -0.140335199451918 ExAC_misZ : 0.238553628190046 Closest_left : LOC128125817 Closest_right : LOC124904160 |
.Location : . CytoBand : p34.2 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_gain_phen : . po_P_gain_hpo : . po_P_gain_source : dbVar:nssv15156967; dbVar:nssv15156970; dbVar:nssv15149867; nssv15151118; dbVar:nssv17969317 po_P_gain_coord : 1:47852-248934250; 1:82155-248924793; 1:914088-248930485; 1:32819982-47426139 po_P_gain_percent : 0.00; 0.00; 0.00; 0.00 po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15146565; dbVar:nssv17969797; dbVar:nssv15146490; dbVar:nssv15145658; dbVar:nssv15138336; dbVar:nssv15123785 po_P_loss_coord : 1:38108666-42327551; 1:38213874-42090621; 1:40462416-44668040; 1:40693290-44514104; 1:40834405-43123071; 1:40877937-42655836 po_P_loss_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . B_loss_source : gnomAD-SV_v3_DEL_chr1_cf5f2df8 B_loss_coord : chr1:13203398-167621949 B_loss_AFmax : 0.1676 po_B_gain_allG_source : . po_B_gain_allG_coord : . po_B_gain_someG_source : . po_B_gain_someG_coord : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : chr1:13203398-167621949 gnomAD-SV_v3_DEL_chr1_cf5f2df8 |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 1:41944456-41948886 Repeat_type_left : HERV17-int Gap_left : . GC_content_left : 0.425 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 1:41944456-41948886 Repeat_type_right : HERV17-int Gap_right : . GC_content_right : 0.425 |
CHM13,HG01891,HG02145,HG02572,HG02717,HG02723[...]Samples_ID : CHM13,HG01891,HG02145,HG02572,HG02717,HG02723,HG03453,HG03579,NA20129,NA21309 |
>907873>907875ID : >907873>907875 |
GREF : G |
GTGGAAATTACTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGA[...]ALT : GTGGAAATTACTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCC |
60QUAL : 60 |
.FILTER : . |
AC=9; AF=0.101124; AN=89; AT=>907873>90[...]INFO : AC=9; AF=0.101124; AN=89; AT=>907873>907875,>907873>907874>907875; LV=0; NS=45; e=41948736; s=317; rC=SINE/Alu |
GTFORMAT : GT |
0CHM13 : 0 |
0|0HG00438 : 0|0 |
0|0HG00621 : 0|0 |
0|0HG00673 : 0|0 |
0|0HG00733 : 0|0 |
0|0HG00735 : 0|0 |
0|0HG00741 : 0|0 |
0|0HG01071 : 0|0 |
0|0HG01106 : 0|0 |
0|0HG01109 : 0|0 |
0|0HG01123 : 0|0 |
0|0HG01175 : 0|0 |
0|0HG01243 : 0|0 |
0|0HG01258 : 0|0 |
0|0HG01358 : 0|0 |
0|0HG01361 : 0|0 |
1|0HG01891 : 1|0 |
0|0HG01928 : 0|0 |
0|0HG01952 : 0|0 |
0|0HG01978 : 0|0 |
0|0HG02055 : 0|0 |
0|0HG02080 : 0|0 |
0|0HG02109 : 0|0 |
0|1HG02145 : 0|1 |
0|0HG02148 : 0|0 |
0|0HG02257 : 0|0 |
0|0HG02486 : 0|0 |
0|0HG02559 : 0|0 |
1|0HG02572 : 1|0 |
0|0HG02622 : 0|0 |
0|0HG02630 : 0|0 |
1|0HG02717 : 1|0 |
1|0HG02723 : 1|0 |
0|0HG02818 : 0|0 |
0|0HG02886 : 0|0 |
0|0HG03098 : 0|0 |
1|0HG03453 : 1|0 |
0|0HG03486 : 0|0 |
0|0HG03492 : 0|0 |
0|0HG03516 : 0|0 |
0|0HG03540 : 0|0 |
0|1HG03579 : 0|1 |
0|0NA18906 : 0|0 |
0|1NA20129 : 0|1 |
1|0NA21309 : 1|0 |
|
full=NAACMG_class : full=NA |
INSSV_type : INS SV_length : 317 |
splitAnnotation_mode : split |
HIVEP3Gene_name : HIVEP3; LOEUF_bin : 1 GnomAD_pLI : 9.0584e-01 ExAC_pLI : 3.0811e-02 HI : 1 TS : 0 DDD_HI_percent : 41.45 ACMG : . ExAC_cnvZ : 0.740013779683848 ExAC_delZ : 0.390621934115917 ExAC_dupZ : 0.623059658099196 ExAC_synZ : -0.140335199451918 ExAC_misZ : 0.238553628190046 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 59269 |
intron1-intron1Location : intron1-intron1 CytoBand : p34.2 Location2 : UTR Tx : NR_038261 Tx_version : 2 Tx_start : 41847188 Tx_end : 42035934 Exon_count : 4 Overlapped_tx_length : 1 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 30211 Nearest_SS_type : 3' Intersect_start : 41948735 Intersect_end : 41948736 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . B_loss_source : gnomAD-SV_v3_DEL_chr1_cf5f2df8 B_loss_coord : chr1:13203398-167621949 B_loss_AFmax : 0.1676 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
CHM13,HG01891,HG02145,HG02572,HG02717,HG02723[...]Samples_ID : CHM13,HG01891,HG02145,HG02572,HG02717,HG02723,HG03453,HG03579,NA20129,NA21309 |
>907873>907875ID : >907873>907875 |
GREF : G |
GTGGAAATTACTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGA[...]ALT : GTGGAAATTACTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCC |
60QUAL : 60 |
.FILTER : . |
AC=9; AF=0.101124; AN=89; AT=>907873>90[...]INFO : AC=9; AF=0.101124; AN=89; AT=>907873>907875,>907873>907874>907875; LV=0; NS=45; e=41948736; s=317; rC=SINE/Alu |
GTFORMAT : GT |
0CHM13 : 0 |
0|0HG00438 : 0|0 |
0|0HG00621 : 0|0 |
0|0HG00673 : 0|0 |
0|0HG00733 : 0|0 |
0|0HG00735 : 0|0 |
0|0HG00741 : 0|0 |
0|0HG01071 : 0|0 |
0|0HG01106 : 0|0 |
0|0HG01109 : 0|0 |
0|0HG01123 : 0|0 |
0|0HG01175 : 0|0 |
0|0HG01243 : 0|0 |
0|0HG01258 : 0|0 |
0|0HG01358 : 0|0 |
0|0HG01361 : 0|0 |
1|0HG01891 : 1|0 |
0|0HG01928 : 0|0 |
0|0HG01952 : 0|0 |
0|0HG01978 : 0|0 |
0|0HG02055 : 0|0 |
0|0HG02080 : 0|0 |
0|0HG02109 : 0|0 |
0|1HG02145 : 0|1 |
0|0HG02148 : 0|0 |
0|0HG02257 : 0|0 |
0|0HG02486 : 0|0 |
0|0HG02559 : 0|0 |
1|0HG02572 : 1|0 |
0|0HG02622 : 0|0 |
0|0HG02630 : 0|0 |
1|0HG02717 : 1|0 |
1|0HG02723 : 1|0 |
0|0HG02818 : 0|0 |
0|0HG02886 : 0|0 |
0|0HG03098 : 0|0 |
1|0HG03453 : 1|0 |
0|0HG03486 : 0|0 |
0|0HG03492 : 0|0 |
0|0HG03516 : 0|0 |
0|0HG03540 : 0|0 |
0|1HG03579 : 0|1 |
0|0NA18906 : 0|0 |
0|1NA20129 : 0|1 |
1|0NA21309 : 1|0 |
|
NAACMG_class : NA AnnotSV_ranking_score : . AnnotSV_ranking_criteria : . |
INSSV_type : INS SV_length : 342 Gene_count : 0 |
fullAnnotation_mode : full |
.Gene_name : . LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . Closest_left : CCNYL6 Closest_right : ZNF43 |
.Location : . CytoBand : p12 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_gain_phen : . po_P_gain_hpo : . po_P_gain_source : dbVar:nssv15173860; dbVar:nssv15150638; nssv15150782; dbVar:nssv15173861; dbVar:nssv15147244; dbVar:nssv15147146; dbVar:nssv15145840; dbVar:nssv15174494; dbVar:nssv15146318; dbVar:nssv17955801 po_P_gain_coord : 19:68030-58598923; 19:260913-58445521; 19:260913-58585793; 19:11227943-44626354; 19:13974678-27839676; 19:15133595-24193591; 19:16415977-24448802; 19:17176768-34924150; 19:19436115-40807324 po_P_gain_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00 po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : . po_P_loss_coord : . po_P_loss_percent : . |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_gain_source : dbVar B_gain_coord : chr19:21745689-23195418 B_gain_AFmax : 0.01 B_loss_source : dbVar; gnomAD-SV_v3_DEL_chr19_056b5f14 B_loss_coord : chr19:20405198-22925354; chr19:21702791-21824952; chr19:21736435-21849023; chr19:21774128-21789805; chr19:21774806-21788569 B_loss_AFmax : 0.2957 po_B_gain_allG_source : . po_B_gain_allG_coord : . po_B_gain_someG_source : . po_B_gain_someG_coord : chr19:21745689-23195418 dbVar po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : chr19:21702791-21824952 dbVar; chr19:21774128-21789805 dbVar; po_B_loss_someG_coord : chr19:20405198-22925354 gnomAD-SV_v3_DEL_chr19_056b5f14; chr19:21736435-21849023 dbVar; chr19:21774806-21788569 dbVar |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 19:21775160-21776666 Repeat_type_left : SVA_D Gap_left : . GC_content_left : 0.505 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 19:21775160-21776666 Repeat_type_right : SVA_D Gap_right : . GC_content_right : 0.500 |
CHM13,HG03579Samples_ID : CHM13,HG03579 |
>71673288>71673290ID : >71673288>71673290 |
CREF : C |
CGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGA[...]ALT : CGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAGTCATCACCACTCC |
60QUAL : 60 |
.FILTER : . |
AC=1; AF=0.011236; AN=89; AT=>71673288>[...]INFO : AC=1; AF=0.011236; AN=89; AT=>71673288>71673290,>71673288<71673289>71673290; LV=0; NS=45; e=21776479; s=342; rC=SINE/Alu |
GTFORMAT : GT |
0CHM13 : 0 |
0|0HG00438 : 0|0 |
0|0HG00621 : 0|0 |
0|0HG00673 : 0|0 |
0|0HG00733 : 0|0 |
0|0HG00735 : 0|0 |
0|0HG00741 : 0|0 |
0|0HG01071 : 0|0 |
0|0HG01106 : 0|0 |
0|0HG01109 : 0|0 |
0|0HG01123 : 0|0 |
0|0HG01175 : 0|0 |
0|0HG01243 : 0|0 |
0|0HG01258 : 0|0 |
0|0HG01358 : 0|0 |
0|0HG01361 : 0|0 |
0|0HG01891 : 0|0 |
0|0HG01928 : 0|0 |
0|0HG01952 : 0|0 |
0|0HG01978 : 0|0 |
0|0HG02055 : 0|0 |
0|0HG02080 : 0|0 |
0|0HG02109 : 0|0 |
0|0HG02145 : 0|0 |
0|0HG02148 : 0|0 |
0|0HG02257 : 0|0 |
0|0HG02486 : 0|0 |
0|0HG02559 : 0|0 |
0|0HG02572 : 0|0 |
0|0HG02622 : 0|0 |
0|0HG02630 : 0|0 |
0|0HG02717 : 0|0 |
0|0HG02723 : 0|0 |
0|0HG02818 : 0|0 |
0|0HG02886 : 0|0 |
0|0HG03098 : 0|0 |
0|0HG03453 : 0|0 |
0|0HG03486 : 0|0 |
0|0HG03492 : 0|0 |
0|0HG03516 : 0|0 |
0|0HG03540 : 0|0 |
1|0HG03579 : 1|0 |
0|0NA18906 : 0|0 |
0|0NA20129 : 0|0 |
0|0NA21309 : 0|0 |
|
NAACMG_class : NA AnnotSV_ranking_score : . AnnotSV_ranking_criteria : . |
INSSV_type : INS SV_length : 317 Gene_count : 0 |
fullAnnotation_mode : full |
.Gene_name : . LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . Closest_left : LINC01444 Closest_right : LOC644669 |
.Location : . CytoBand : p11.21 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_gain_phen : . po_P_gain_hpo : . po_P_gain_source : dbVar:nssv15147091; dbVar:nssv17976993; dbVar:nssv15174218; dbVar:nssv15173597; dbVar:nssv15146418; dbVar:nssv15146417; dbVar:nssv15147412; dbVar:nssv15148900; dbVar:nssv15146776; nssv15149912; nssv15153905; nssv17969149; dbVar:nssv15151158; dbVar:nssv15151280; dbVar:nssv17956154; dbVar:nssv15148237; nssv17969152; dbVar:nssv15149976; dbVar:nssv15148196; nssv15150633; dbVar:nssv15147095; dbVar:nssv15145762; dbVar:nssv15146335; nssv15148275; dbVar:nssv15147988; dbVar:nssv15147431; dbVar:nssv15147830; dbVar:nssv15147673; dbVar:nssv15152479; dbVar:nssv15146422; dbVar:nssv15146747; dbVar:nssv15148471; dbVar:nssv15139897; dbVar:nssv15151212 po_P_gain_coord : 18:10002-15380684; 18:10002-80259271; 18:12843-80257297; 18:13035-80257297; 18:53346-20948503; 18:53346-80209986; 18:118761-80254946; 18:136227-15175006; 18:136227-15198991; 18:136227-20941324; 18:136227-24077826; 18:136227-27672312; 18:136227-80256240; 18:136228-48644682; 18:136228-80256240; 18:148964-21040153; 18:148964-80244381; 18:148964-80252149; 18:149090-80234391; 18:149090-80254936; 18:163324-80247302; 18:163324-80247353; 18:958974-15181667; 18:1919685-15325188; 18:8779844-24685379; 18:12254329-25682785; 18:13340113-23409879; 18:14869206-80256240 po_P_gain_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00 po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv18792749; dbVar:nssv17955800; dbVar:nssv16208662; dbVar:nssv15151600; dbVar:nssv15127405; dbVar:nssv15147565; dbVar:nssv16208986; dbVar:nssv15152480; dbVar:nssv15151881; nssv17969150; dbVar:nssv16208516; dbVar:nssv17955847; dbVar:nssv16254982 po_P_loss_coord : 18:10002-15400036; 18:10502-15410399; 18:13035-15330526; 18:13035-15375879; 18:14276-20949945; 18:14317-15328500; 18:136227-15175006; 18:136227-15198990; 18:136227-15198991; 18:136227-20949617; 18:1262334-55587520; 18:7598176-15410899 po_P_loss_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00 |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_gain_source : dbVar B_gain_coord : chr18:15066905-15205860 B_gain_AFmax : 0.01 B_loss_source : dbVar B_loss_coord : chr18:14682499-15296001 B_loss_AFmax : 0.01 po_B_gain_allG_source : . po_B_gain_allG_coord : . po_B_gain_someG_source : . po_B_gain_someG_coord : chr18:15066905-15205860 dbVar po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : chr18:14682499-15296001 dbVar |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : 18:15106777-15390842; 18:15165189-15178378; 18:15165189-15178378; 18:15165189-15183877; 18:15165189-15183884; 18:15165189-15183888; 18:15165189-15183890; 18:15165190-15183891; 18:15165199-15183011; 18:15165261-15171689; 18:15165269-15171688; 18:15165269-15171688; 18:15165269-15171688; 18:15165325-15183890; 18:15165341-15174990; 18:15165341-15178378; 18:15165341-15183857; 18:15165341-15183890; 18:15165347-15183890; 18:15165348-15171602; 18:15165348-15181372; 18:15165348-15226568; 18:15165351-15171688; 18:15165351-15171689; 18:15165351-15171689; 18:15165499-15193021 Repeat_coord_left : . Repeat_type_left : . Gap_left : . GC_content_left : 0.250 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : 18:15106777-15390842; 18:15165189-15178378; 18:15165189-15178378; 18:15165189-15183877; 18:15165189-15183884; 18:15165189-15183888; 18:15165189-15183890; 18:15165190-15183891; 18:15165199-15183011; 18:15165261-15171689; 18:15165269-15171688; 18:15165269-15171688; 18:15165269-15171688; 18:15165325-15183890; 18:15165341-15174990; 18:15165341-15178378; 18:15165341-15183857; 18:15165341-15183890; 18:15165347-15183890; 18:15165348-15171602; 18:15165348-15181372; 18:15165348-15226568; 18:15165351-15171688; 18:15165351-15171689; 18:15165351-15171689; 18:15165499-15193021 Repeat_coord_right : . Repeat_type_right : . Gap_right : . GC_content_right : 0.250 |
CHM13,HG02723Samples_ID : CHM13,HG02723 |
>69819456>69819454ID : >69819456>69819454 |
GREF : G |
GGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAG[...]ALT : GGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGAAATATTATTG |
60QUAL : 60 |
.FILTER : . |
AC=1; AF=0.011236; AN=89; AT=>69819456>[...]INFO : AC=1; AF=0.011236; AN=89; AT=>69819456>69819454,>69819456<69819455>69819454; LV=0; NS=45; e=15166303; s=317; rC=SINE/Alu |
GTFORMAT : GT |
0CHM13 : 0 |
0|0HG00438 : 0|0 |
0|0HG00621 : 0|0 |
0|0HG00673 : 0|0 |
0|0HG00733 : 0|0 |
0|0HG00735 : 0|0 |
0|0HG00741 : 0|0 |
0|0HG01071 : 0|0 |
0|0HG01106 : 0|0 |
0|0HG01109 : 0|0 |
0|0HG01123 : 0|0 |
0|0HG01175 : 0|0 |
0|0HG01243 : 0|0 |
0|0HG01258 : 0|0 |
0|0HG01358 : 0|0 |
0|0HG01361 : 0|0 |
0|0HG01891 : 0|0 |
0|0HG01928 : 0|0 |
0|0HG01952 : 0|0 |
0|0HG01978 : 0|0 |
0|0HG02055 : 0|0 |
0|0HG02080 : 0|0 |
0|0HG02109 : 0|0 |
0|0HG02145 : 0|0 |
0|0HG02148 : 0|0 |
0|0HG02257 : 0|0 |
0|0HG02486 : 0|0 |
0|0HG02559 : 0|0 |
0|0HG02572 : 0|0 |
0|0HG02622 : 0|0 |
0|0HG02630 : 0|0 |
0|0HG02717 : 0|0 |
0|1HG02723 : 0|1 |
0|0HG02818 : 0|0 |
0|0HG02886 : 0|0 |
0|0HG03098 : 0|0 |
0|0HG03453 : 0|0 |
0|0HG03486 : 0|0 |
0|0HG03492 : 0|0 |
0|0HG03516 : 0|0 |
0|0HG03540 : 0|0 |
0|0HG03579 : 0|0 |
0|0NA18906 : 0|0 |
0|0NA20129 : 0|0 |
0|0NA21309 : 0|0 |
|
NAACMG_class : NA AnnotSV_ranking_score : . AnnotSV_ranking_criteria : . |
INSSV_type : INS SV_length : 328 Gene_count : 0 |
fullAnnotation_mode : full |
.Gene_name : . LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . Closest_left : LOC105371959 Closest_right : LOC105371958 |
.Location : . CytoBand : p11.32 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_gain_phen : . po_P_gain_hpo : . po_P_gain_source : dbVar:nssv15147091; dbVar:nssv17976993; dbVar:nssv15174218; dbVar:nssv15173597; dbVar:nssv15148163; dbVar:nssv17976674; dbVar:nssv15146418; dbVar:nssv15146417; dbVar:nssv15147372; dbVar:nssv15147412; dbVar:nssv15120382; dbVar:nssv15146781; dbVar:nssv17969147; dbVar:nssv15153904; dbVar:nssv15148900; dbVar:nssv15146776; nssv15149912; nssv15153905; nssv17969149; dbVar:nssv15151158; dbVar:nssv15151280; dbVar:nssv17956154; dbVar:nssv15148237; nssv17969152; dbVar:nssv15149976; dbVar:nssv15148196; nssv15150633; dbVar:nssv15148050; dbVar:nssv15147095; dbVar:nssv15133614; dbVar:nssv15145762; dbVar:nssv15146335; nssv15148275; dbVar:nssv15137988; dbVar:nssv15147988; dbVar:nssv15147431; dbVar:nssv15146963; dbVar:nssv15147830; dbVar:nssv15147673; dbVar:nssv15121122; dbVar:nssv15147569; nssv15153169; dbVar:nssv15152479 po_P_gain_coord : 18:10002-15380684; 18:10002-80259271; 18:12843-80257297; 18:13035-80257297; 18:14317-14206225; 18:47391-14854038; 18:53346-20948503; 18:53346-80209986; 18:118761-14089410; 18:118761-80254946; 18:131501-4421014; 18:136227-14337134; 18:136227-14384327; 18:136227-15157837; 18:136227-15175006; 18:136227-15198991; 18:136227-20941324; 18:136227-24077826; 18:136227-27672312; 18:136227-80256240; 18:136228-48644682; 18:136228-80256240; 18:148964-14081888; 18:148964-21040153; 18:148964-2221286; 18:148964-80244381; 18:148964-80252149; 18:149090-5458472; 18:149090-80234391; 18:149090-80254936; 18:163324-15102599; 18:163324-80247302; 18:163324-80247353; 18:180231-4199943; 18:416491-8638372; 18:958974-15181667 po_P_gain_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00 po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15150750; dbVar:nssv18792749; dbVar:nssv18326322; dbVar:nssv17955800; dbVar:nssv15151907; dbVar:nssv16208662; dbVar:nssv15151600; dbVar:nssv15130561; dbVar:nssv15128089; dbVar:nssv15127405; dbVar:nssv15128420; dbVar:nssv15147574; dbVar:nssv15147565; dbVar:nssv15148923; dbVar:nssv15134419; dbVar:nssv17650012; dbVar:nssv15137462; dbVar:nssv15146527; dbVar:nssv15146463; dbVar:nssv15146728; dbVar:nssv15147522; dbVar:nssv15134538; dbVar:nssv15137735; dbVar:nssv15136586; dbVar:nssv15148875; dbVar:nssv15174219; dbVar:nssv15147189; dbVar:nssv15147175; dbVar:nssv15146528; dbVar:nssv15121941; dbVar:nssv15145886; dbVar:nssv15152476; dbVar:nssv17976907; dbVar:nssv15155582; dbVar:nssv17969146; dbVar:nssv16208985; dbVar:nssv17977099; dbVar:nssv17969148; dbVar:nssv15150379; dbVar:nssv16208986; dbVar:nssv15152480; dbVar:nssv15151881; nssv17969150; dbVar:nssv16208516; dbVar:nssv15138130; dbVar:nssv16255074; dbVar:nssv16208981; dbVar:nssv15137029; dbVar:nssv15139629; dbVar:nssv15152473; dbVar:nssv15141983; dbVar:nssv16208512; dbVar:nssv17969145; dbVar:nssv17976908; dbVar:nssv15156230; dbVar:nssv18329625; dbVar:nssv18330775; dbVar:nssv16208515; dbVar:nssv15148109; dbVar:nssv15146561; dbVar:nssv15146560; dbVar:nssv15145673; dbVar:nssv15145680; nssv15146802; dbVar:nssv15136339; dbVar:nssv15135459; dbVar:nssv15133988; dbVar:nssv15136818; dbVar:nssv18841839; dbVar:nssv15149109; dbVar:nssv15148103; dbVar:nssv16208513; dbVar:nssv15148944; dbVar:nssv16208514; dbVar:nssv17955847 po_P_loss_coord : 18:10002-15157837; 18:10002-15400036; 18:10002-8638262; 18:10502-15410399; 18:13035-15026310; 18:13035-15330526; 18:13035-15375879; 18:14276-12811388; 18:14276-13649734; 18:14276-20949945; 18:14276-8779843; 18:14317-10784608; 18:14317-15328500; 18:48783-14978076; 18:53345-7029134; 18:64997-6838316; 18:85433-7094700; 18:112260-14122522; 18:112260-9135777; 18:118761-14089410; 18:118761-15024003; 18:118761-4342182; 18:118761-4470508; 18:118761-6275718; 18:118761-8999132; 18:124336-14139007; 18:131701-10536767; 18:131701-14226905; 18:131701-15121055; 18:131701-3279166; 18:133158-14089410; 18:136227-10074736; 18:136227-10172944; 18:136227-12767080; 18:136227-13655147; 18:136227-13894430; 18:136227-14632437; 18:136227-14983939; 18:136227-15157837; 18:136227-15175006; 18:136227-15198990; 18:136227-15198991; 18:136227-20949617; 18:136227-2994136; 18:136227-3415480; 18:136227-3502495; 18:136227-4002983; 18:136227-4802275; 18:136227-4925311; 18:136227-5323942; 18:136227-5407840; 18:136227-6103500; 18:136227-7131133; 18:136227-8057396; 18:136228-11283185; 18:136228-7218596; 18:136305-15143715; 18:148964-10900517; 18:148964-13068104; 18:148964-13530126; 18:148964-13715860; 18:148964-14081888; 18:148964-1949961; 18:148964-2313458; 18:148964-6086668; 18:149090-5276567; 18:158287-14124574; 18:163324-14103972; 18:180230-10762632; 18:544118-5679225; 18:958975-11954935; 18:971295-11250448; 18:1262334-55587520 po_P_loss_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00 |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_gain_source : dbVar B_gain_coord : chr18:1723989-2065652 B_gain_AFmax : 0.01 B_loss_source : dbVar B_loss_coord : chr18:1732356-1939436; chr18:1785704-1924634; chr18:1859084-1887748 B_loss_AFmax : 0.01 po_B_gain_allG_source : . po_B_gain_allG_coord : . po_B_gain_someG_source : . po_B_gain_someG_coord : chr18:1723989-2065652 dbVar po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : chr18:1785704-1924634 dbVar; po_B_loss_someG_coord : chr18:1732356-1939436 dbVar; chr18:1859084-1887748 dbVar |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 18:1861468-1862003 Repeat_type_left : MER41B Gap_left : . GC_content_left : 0.385 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 18:1861468-1862003 Repeat_type_right : MER41B Gap_right : . GC_content_right : 0.390 |
CHM13,HG03540Samples_ID : CHM13,HG03540 |
>69419204>69419206ID : >69419204>69419206 |
TREF : T |
TTCTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGA[...]ALT : TTCTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCCGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCCGAAT |
60QUAL : 60 |
.FILTER : . |
AC=1; AF=0.011236; AN=89; AT=>69419204>[...]INFO : AC=1; AF=0.011236; AN=89; AT=>69419204>69419206,>69419204>69419205>69419206; LV=0; NS=45; e=1861938; s=328; rC=SINE/Alu |
GTFORMAT : GT |
0CHM13 : 0 |
0|0HG00438 : 0|0 |
0|0HG00621 : 0|0 |
0|0HG00673 : 0|0 |
0|0HG00733 : 0|0 |
0|0HG00735 : 0|0 |
0|0HG00741 : 0|0 |
0|0HG01071 : 0|0 |
0|0HG01106 : 0|0 |
0|0HG01109 : 0|0 |
0|0HG01123 : 0|0 |
0|0HG01175 : 0|0 |
0|0HG01243 : 0|0 |
0|0HG01258 : 0|0 |
0|0HG01358 : 0|0 |
0|0HG01361 : 0|0 |
0|0HG01891 : 0|0 |
0|0HG01928 : 0|0 |
0|0HG01952 : 0|0 |
0|0HG01978 : 0|0 |
0|0HG02055 : 0|0 |
0|0HG02080 : 0|0 |
0|0HG02109 : 0|0 |
0|0HG02145 : 0|0 |
0|0HG02148 : 0|0 |
0|0HG02257 : 0|0 |
0|0HG02486 : 0|0 |
0|0HG02559 : 0|0 |
0|0HG02572 : 0|0 |
0|0HG02622 : 0|0 |
0|0HG02630 : 0|0 |
0|0HG02717 : 0|0 |
0|0HG02723 : 0|0 |
0|0HG02818 : 0|0 |
0|0HG02886 : 0|0 |
0|0HG03098 : 0|0 |
0|0HG03453 : 0|0 |
0|0HG03486 : 0|0 |
0|0HG03492 : 0|0 |
0|0HG03516 : 0|0 |
1|0HG03540 : 1|0 |
0|0HG03579 : 0|0 |
0|0NA18906 : 0|0 |
0|0NA20129 : 0|0 |
0|0NA21309 : 0|0 |
|
NAACMG_class : NA AnnotSV_ranking_score : . AnnotSV_ranking_criteria : . |
INSSV_type : INS SV_length : 289 Gene_count : 0 |
fullAnnotation_mode : full |
.Gene_name : . LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . Closest_left : ZNF652-AS1 Closest_right : PHB1 |
.Location : . CytoBand : q21.33 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_gain_phen : . po_P_gain_hpo : . po_P_gain_source : dbVar:nssv15149908; nssv15152170; dbVar:nssv15159024; dbVar:nssv15160732; dbVar:nssv15159027; dbVar:nssv15127236; dbVar:nssv15146325; dbVar:nssv15147369; dbVar:nssv15149626 po_P_gain_coord : 17:150734-83084062; 17:157424-83100564; 17:158757-83102004; 17:162554-83100251; 17:16854250-83103577; 17:36449221-68170214; 17:36449221-75053130; 17:44503317-83137846 po_P_gain_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00 po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15127168; dbVar:nssv15151905; dbVar:nssv15146525; dbVar:nssv15120738; dbVar:nssv15137349 po_P_loss_coord : 17:36382249-83103577; 17:48403728-53319007; 17:48520886-49511208; 17:49137865-52147810; 17:49361156-50269440 po_P_loss_percent : 0.00; 0.00; 0.00; 0.00; 0.00 |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_gain_source : dbVar B_gain_coord : chr17:49389253-49400471; chr17:49392314-49393212 B_gain_AFmax : 0.01 B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_gain_allG_source : . po_B_gain_allG_coord : . po_B_gain_someG_source : chr17:49392314-49393212 dbVar po_B_gain_someG_coord : chr17:49389253-49400471 dbVar po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 17:49392805-49392919; 17:49392929-49392967; 17:49392972-49393020; 17:49393033-49393323 Repeat_type_left : LTR9B; (ATTT)n; AluYk11; AluSq2 Gap_left : . GC_content_left : 0.435 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 17:49392805-49392919; 17:49392929-49392967; 17:49392972-49393020; 17:49393033-49393323 Repeat_type_right : LTR9B; (ATTT)n; AluYk11; AluSq2 Gap_right : . GC_content_right : 0.435 |
CHM13,HG01071,HG01952,HG02109,HG02145,HG02148[...]Samples_ID : CHM13,HG01071,HG01952,HG02109,HG02145,HG02148,HG02559,HG02622,HG02630,HG02717,HG02818,HG03516,HG03579 |
>66522473>66522475ID : >66522473>66522475 |
TREF : T |
TCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCTGGCCT[...]ALT : TCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCTGGCCTTTTTTTTTTGAGATGGAGTCTTGCTCTATCACCAGGCTGGAGTGCAGTGGCGCAATCTTGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCACGTGCCACCATGCCCAGCTAATTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGATGGTCTCTATCTCTTGATTTCATGATCCGCCTGCCTCGGCCT |
60QUAL : 60 |
.FILTER : . |
AC=14; AF=0.157303; AN=89; AT=>66522473>[...]INFO : AC=14; AF=0.157303; AN=89; AT=>66522473>66522475,>66522473>66522474>66522475; LV=0; NS=45; e=49392977; s=289; rC=SINE/Alu |
GTFORMAT : GT |
0CHM13 : 0 |
0|0HG00438 : 0|0 |
0|0HG00621 : 0|0 |
0|0HG00673 : 0|0 |
0|0HG00733 : 0|0 |
0|0HG00735 : 0|0 |
0|0HG00741 : 0|0 |
1|0HG01071 : 1|0 |
0|0HG01106 : 0|0 |
0|0HG01109 : 0|0 |
0|0HG01123 : 0|0 |
0|0HG01175 : 0|0 |
0|0HG01243 : 0|0 |
0|0HG01258 : 0|0 |
0|0HG01358 : 0|0 |
0|0HG01361 : 0|0 |
0|0HG01891 : 0|0 |
0|0HG01928 : 0|0 |
1|0HG01952 : 1|0 |
0|0HG01978 : 0|0 |
0|0HG02055 : 0|0 |
0|0HG02080 : 0|0 |
1|0HG02109 : 1|0 |
0|1HG02145 : 0|1 |
0|1HG02148 : 0|1 |
0|0HG02257 : 0|0 |
0|0HG02486 : 0|0 |
0|1HG02559 : 0|1 |
0|0HG02572 : 0|0 |
1|1HG02622 : 1|1 |
1|0HG02630 : 1|0 |
0|1HG02717 : 0|1 |
0|0HG02723 : 0|0 |
1|1HG02818 : 1|1 |
0|0HG02886 : 0|0 |
0|0HG03098 : 0|0 |
0|0HG03453 : 0|0 |
0|0HG03486 : 0|0 |
0|0HG03492 : 0|0 |
1|0HG03516 : 1|0 |
0|0HG03540 : 0|0 |
1|0HG03579 : 1|0 |
0|0NA18906 : 0|0 |
0|0NA20129 : 0|0 |
0|0NA21309 : 0|0 |
|
NAACMG_class : NA AnnotSV_ranking_score : . AnnotSV_ranking_criteria : . |
INSSV_type : INS SV_length : 166 Gene_count : 0 |
fullAnnotation_mode : full |
.Gene_name : . LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . Closest_left : HOXB1 Closest_right : HOXB2 |
.Location : . CytoBand : q21.32 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
SP6 (morbid/RE=GH_promoter_enhancer); HOXB1 ([...]RE_gene : SP6 (morbid/RE=GH_promoter_enhancer); HOXB1 (morbid/RE=GH_promoter_enhancer); |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_gain_phen : . po_P_gain_hpo : . po_P_gain_source : dbVar:nssv15149908; nssv15152170; dbVar:nssv15159024; dbVar:nssv15160732; dbVar:nssv15159027; dbVar:nssv15127236; dbVar:nssv15146325; dbVar:nssv15147369; dbVar:nssv15149626 po_P_gain_coord : 17:150734-83084062; 17:157424-83100564; 17:158757-83102004; 17:162554-83100251; 17:16854250-83103577; 17:36449221-68170214; 17:36449221-75053130; 17:44503317-83137846 po_P_gain_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00 po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15127168; dbVar:nssv15146046; dbVar:nssv15151905; dbVar:nssv15146525 po_P_loss_coord : 17:36382249-83103577; 17:47986887-49329397; 17:48403728-53319007; 17:48520886-49511208 po_P_loss_percent : 0.00; 0.00; 0.00; 0.00 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . B_loss_source : 1000g; dbVar; esv2657148; esv3640717 B_loss_coord : chr17:48538431-48539909; 17:48538432-48539909; 17:48538432-48539909; 17:48538439-48539858 B_loss_AFmax : 0.3085 po_B_gain_allG_source : . po_B_gain_allG_coord : . po_B_gain_someG_source : . po_B_gain_someG_coord : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : 17:48538432-48539909 1000g; 17:48538439-48539858 esv2657148 po_B_loss_someG_coord : chr17:48538431-48539909 dbVar; 17:48538432-48539909 esv3640717 |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : . Repeat_type_left : . Gap_left : . GC_content_left : 0.440 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : . Repeat_type_right : . Gap_right : . GC_content_right : 0.440 |
CHM13,HG00438,HG00621,HG00673,HG00733,HG00741[...]Samples_ID : CHM13,HG00438,HG00621,HG00673,HG00733,HG00741,HG01071,HG01106,HG01109,HG01175,HG01243,HG01258,HG01358,HG01361,HG01891,HG01928,HG01952,HG01978,HG02055,HG02080,HG02109,HG02145,HG02148,HG02257,HG02559,HG02630,HG02717,HG02818,HG02886,HG03098,HG03453,HG03486,HG03492,HG03516,HG03540,NA18906,NA20129 |
>66502557>66502559ID : >66502557>66502559 |
AREF : A |
ACGGATCACTTGAGGTCAGGAGTTCGAGGCCAGCCTGGCCAACAT[...]ALT : ACGGATCACTTGAGGTCAGGAGTTCGAGGCCAGCCTGGCCAACATGGTGAAACCTCATCTTTACTAAAAATATAAAAATTAGCCAGGCGTGGTGGCAGGTACCTGAGGTCCCAGCTACTTGGGAGGCTGAGACAGGAGAATCACTTGAACCCAGAAGGTGGAGGTTG |
60QUAL : 60 |
.FILTER : . |
AC=58; AF=0.651685; AN=89; AT=>66502557>[...]INFO : AC=58; AF=0.651685; AN=89; AT=>66502557>66502559,>66502557>66502558>66502559; LV=0; NS=45; e=48539858; s=166; rC=SINE/Alu |
GTFORMAT : GT |
1CHM13 : 1 |
1|1HG00438 : 1|1 |
1|1HG00621 : 1|1 |
1|1HG00673 : 1|1 |
1|1HG00733 : 1|1 |
0|0HG00735 : 0|0 |
0|1HG00741 : 0|1 |
0|1HG01071 : 0|1 |
0|1HG01106 : 0|1 |
1|1HG01109 : 1|1 |
0|0HG01123 : 0|0 |
1|1HG01175 : 1|1 |
1|0HG01243 : 1|0 |
1|1HG01258 : 1|1 |
1|1HG01358 : 1|1 |
1|1HG01361 : 1|1 |
1|1HG01891 : 1|1 |
1|1HG01928 : 1|1 |
1|1HG01952 : 1|1 |
1|1HG01978 : 1|1 |
1|1HG02055 : 1|1 |
1|1HG02080 : 1|1 |
1|0HG02109 : 1|0 |
0|1HG02145 : 0|1 |
1|1HG02148 : 1|1 |
1|1HG02257 : 1|1 |
0|0HG02486 : 0|0 |
1|1HG02559 : 1|1 |
0|0HG02572 : 0|0 |
0|0HG02622 : 0|0 |
0|1HG02630 : 0|1 |
0|1HG02717 : 0|1 |
0|0HG02723 : 0|0 |
1|1HG02818 : 1|1 |
0|1HG02886 : 0|1 |
1|0HG03098 : 1|0 |
0|1HG03453 : 0|1 |
1|1HG03486 : 1|1 |
0|1HG03492 : 0|1 |
1|0HG03516 : 1|0 |
0|1HG03540 : 0|1 |
0|0HG03579 : 0|0 |
1|1NA18906 : 1|1 |
0|1NA20129 : 0|1 |
0|0NA21309 : 0|0 |
|
NAACMG_class : NA AnnotSV_ranking_score : . AnnotSV_ranking_criteria : . |
INSSV_type : INS SV_length : 422 Gene_count : 0 |
fullAnnotation_mode : full |
.Gene_name : . LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . Closest_left : PRPSAP2 Closest_right : LOC124904114 |
.Location : . CytoBand : p11.2 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_gain_phen : 17p11.2 recurrent (SMS/PLS) region (includes RAI1) po_P_gain_hpo : . po_P_gain_source : dbVar:nssv15149908; nssv15152170; dbVar:nssv15159024; dbVar:nssv15160732; dbVar:nssv15159027; dbVar:nssv15132415; dbVar:nssv15133505; dbVar:nssv15138295; dbVar:nssv15128226; dbVar:nssv15124254; dbVar:nssv15173356; dbVar:nssv15139336; dbVar:nssv15133507; dbVar:nssv15128121; dbVar:nssv15151838; dbVar:nssv15132416; dbVar:nssv15138822; dbVar:nssv16867367; dbVar:nssv15138079; dbVar:nssv15138119; dbVar:nssv15132162; dbVar:nssv15133509; dbVar:nssv15139892; dbVar:nssv15133800; dbVar:nssv15142524; dbVar:nssv15133510; dbVar:nssv15132418; dbVar:nssv18830823; dbVar:nssv15145036; dbVar:nssv15143128; dbVar:nssv15133511; dbVar:nssv15140285; dbVar:nssv15132163; dbVar:nssv15153063; dbVar:nssv15127236; dbVar:nssv15132744; dbVar:nssv15134745; dbVar:nssv15136683; dbVar:nssv15155531; dbVar:nssv16254268; dbVar:nssv15141666; dbVar:nssv15138264; dbVar:nssv15127246; dbVar:nssv15132073; dbVar:nssv15133043; dbVar:nssv15132522; TS3:ISCA-37418; dbVar:nssv15133512; dbVar:nssv17955820; dbVar:nssv15130147; dbVar:nssv18330242; dbVar:nssv15142046 po_P_gain_coord : 17:150734-83084062; 17:157424-83100564; 17:158757-83102004; 17:162554-83100251; 17:15234686-20620700; 17:15259165-20925299; 17:15552363-19014200; 17:15809697-20678097; 17:15863707-20357937; 17:15892827-20427818; 17:16426634-20998588; 17:16656169-20390725; 17:16678211-20473451; 17:16687947-20570624; 17:16692463-20390725; 17:16696709-20492860; 17:16698290-20160056; 17:16699695-20530646; 17:16699817-20492214; 17:16713515-20582527; 17:16713516-20340442; 17:16718416-20546210; 17:16734559-20390697; 17:16747979-20534219; 17:16760818-20429770; 17:16760819-20504849; 17:16761426-20467470; 17:16770856-20422847; 17:16834848-20434869; 17:16836828-20340442; 17:16836828-20357878; 17:16836828-20504849; 17:16853798-20316338; 17:16854250-83103577; 17:16854251-20492169; 17:16854251-20492214; 17:16854251-20560048; 17:16858501-20389584; 17:16858501-20426749; 17:16858501-20436482; 17:16858501-20570955; 17:16873929-20492163; 17:16879233-18970941; 17:16879233-20316151; 17:16879233-20390725; 17:16906715-20309889; 17:16919370-20289856; 17:16925840-20458434; 17:16938850-20314464; 17:17200258-19427715; 17:17331512-19017784 po_P_gain_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00 po_P_loss_phen : 17p11.2 recurrent (SMS/PLS) region (includes RAI1) po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15139902; dbVar:nssv15140983; dbVar:nssv15139942; dbVar:nssv15127517; dbVar:nssv15137280; dbVar:nssv15138740; dbVar:nssv15132261; dbVar:nssv15137289; dbVar:nssv15126011; dbVar:nssv15127897; dbVar:nssv15140197; dbVar:nssv15136006; dbVar:nssv15139237; dbVar:nssv15134534; dbVar:nssv15136285; dbVar:nssv15140973; dbVar:nssv15136269; dbVar:nssv17976984; dbVar:nssv15124321; dbVar:nssv15158951; dbVar:nssv15131811; dbVar:nssv17976083; dbVar:nssv15145217; dbVar:nssv15155530; dbVar:nssv15142308; dbVar:nssv15143559; dbVar:nssv15133021; dbVar:nssv15139436; dbVar:nssv15143574; dbVar:nssv15155510; dbVar:nssv15150816; dbVar:nssv15141179; dbVar:nssv15139928; dbVar:nssv15140755; dbVar:nssv15133256; dbVar:nssv15133257; dbVar:nssv15138754; dbVar:nssv16254269; dbVar:nssv15158952; dbVar:nssv15150688; dbVar:nssv15130146; nssv15132265; dbVar:nssv15133799; HI3:ISCA-37418; dbVar:nssv15605914; dbVar:nssv15136704; dbVar:nssv15138509; dbVar:nssv15138641; dbVar:nssv15155532; dbVar:nssv15155533; dbVar:nssv15123501; dbVar:nssv18792800; dbVar:nssv16867364; dbVar:nssv17976985; dbVar:nssv15141075; dbVar:nssv15133753; dbVar:nssv18786275; dbVar:nssv15134647; dbVar:nssv15133289 po_P_loss_coord : 17:15729894-20510251; 17:15842002-20357878; 17:15850860-20649235; 17:15860439-20712095; 17:15883038-20620700; 17:15883038-20658018; 17:15898033-20620700; 17:16656163-20390697; 17:16678211-20531338; 17:16678211-20561007; 17:16699817-20357878; 17:16699817-20390725; 17:16699817-20428292; 17:16734559-20390697; 17:16734589-20316151; 17:16734589-20357937; 17:16734589-20390725; 17:16747979-20383585; 17:16750989-20357937; 17:16757408-20514662; 17:16760819-20390725; 17:16761426-20314065; 17:16770856-20585863; 17:16823951-20406928; 17:16823951-20492576; 17:16823951-20510251; 17:16836828-20465067; 17:16838098-20436415; 17:16838098-20506905; 17:16838098-20527478; 17:16838098-20585710; 17:16842287-20492860; 17:16853121-20436482; 17:16854251-20357878; 17:16858445-20340442; 17:16858445-20465067; 17:16858501-20559337; 17:16860057-20492298; 17:16864935-20488646; 17:16868951-20393778; 17:16879233-20390725; 17:16879234-20390697; 17:16906715-20309889; 17:16939678-20314003; 17:16989088-20370816; 17:17018952-20148630; 17:17067834-19019419; 17:17096667-20395666; 17:17118294-20112665; 17:17150077-19989785; 17:17213656-20314065; 17:17242048-20234630; 17:17247827-20284640; 17:17297113-22374304; 17:17331512-20022528; 17:18856299-20402192; 17:18859290-20316151; 17:18872618-20316151 po_P_loss_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00 |
.P_snvindel_nb : . P_snvindel_phen : . |
DDD:48925; IMH; dbVar; gnomAD-SV_v3_DUP_chr17[...]B_gain_source : DDD:48925; IMH; dbVar; gnomAD-SV_v3_DUP_chr17_200f84d2 B_gain_coord : chr17:18843686-18964187; chr17:18920166-19019319; chr17:18922315-19337136; chr17:18929687-18964187; chr17:18931639-19014522; 17:18940856-19231102; chr17:18942348-18942767; 17:18942348-18942803 B_gain_AFmax : 0.0270 B_loss_source : DDD:48925 B_loss_coord : 17:18940856-19231102 B_loss_AFmax : 0.0142 po_B_gain_allG_source : . po_B_gain_allG_coord : . po_B_gain_someG_source : chr17:18920166-19019319 dbVar; chr17:18929687-18964187 dbVar; 17:18940856-19231102 DDD:48925; 17:18942348-18942803 IMH po_B_gain_someG_coord : chr17:18843686-18964187 dbVar; chr17:18922315-19337136 gnomAD-SV_v3_DUP_chr17_200f84d2; chr17:18931639-19014522 dbVar; chr17:18942348-18942767 dbVar po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : 17:18940856-19231102 DDD:48925 |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 17:18942338-18942645; 17:18942646-18942756 Repeat_type_left : AluJb; L1MC1 Gap_left : . GC_content_left : 0.475 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 17:18942338-18942645; 17:18942646-18942756 Repeat_type_right : AluJb; L1MC1 Gap_right : . GC_content_right : 0.470 |
CHM13,HG00741,HG01109,HG02257,HG02622,HG02630[...]Samples_ID : CHM13,HG00741,HG01109,HG02257,HG02622,HG02630,HG03453,HG03516 |
>67867681>67867683ID : >67867681>67867683 |
CREF : C |
CCGGTGACAGAGTGAGACCCCATCTCAAAAAAAAAAAAAAAAAAA[...]ALT : CCGGTGACAGAGTGAGACCCCATCTCAAAAAAAAAAAAAAAAAAAAATTCTGCTCTGCAAAAGACAGTGTCAAGAGAATGAAAAGACACAGACTGGGAGAAAATAGTTCCCAAAGACATATCTGATAAAGAAGTGTTGTTCAAAATATAGAAAGAACTGGCCACGTGCTGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGTGGATCACCTGAGCTCAGGAGTTTGAGATCAGCCTGGGCAACAAGGAAAAACACTGTCTCTACCAAAGATATGAAAAAAAAAAATTAGCTGGGCATGGTGGTGCATGCCTGTGGTCCCAGCTACCTAGGGGTGCTGATGTGGGAGGATGGCTTCAGCTAGGGAGGAAGAGGTTACAGTGAGCCGAGATTGAGCCACTGCACTTCAACCC |
60QUAL : 60 |
.FILTER : . |
AC=7; AF=0.0786517; AN=89; AT=>67867681>[...]INFO : AC=7; AF=0.0786517; AN=89; AT=>67867681>67867683,>67867681>67867682>67867683; CONFLICT=HG03540; LV=0; NS=45; e=18942601; s=422; rC=SINE/Alu |
GTFORMAT : GT |
0CHM13 : 0 |
0|0HG00438 : 0|0 |
0|0HG00621 : 0|0 |
0|0HG00673 : 0|0 |
0|0HG00733 : 0|0 |
0|0HG00735 : 0|0 |
1|0HG00741 : 1|0 |
0|0HG01071 : 0|0 |
0|0HG01106 : 0|0 |
0|1HG01109 : 0|1 |
0|0HG01123 : 0|0 |
0|0HG01175 : 0|0 |
0|0HG01243 : 0|0 |
0|0HG01258 : 0|0 |
0|0HG01358 : 0|0 |
0|0HG01361 : 0|0 |
0|0HG01891 : 0|0 |
0|0HG01928 : 0|0 |
0|0HG01952 : 0|0 |
0|0HG01978 : 0|0 |
0|0HG02055 : 0|0 |
0|0HG02080 : 0|0 |
0|0HG02109 : 0|0 |
0|0HG02145 : 0|0 |
0|0HG02148 : 0|0 |
1|0HG02257 : 1|0 |
0|0HG02486 : 0|0 |
0|0HG02559 : 0|0 |
0|0HG02572 : 0|0 |
0|1HG02622 : 0|1 |
0|1HG02630 : 0|1 |
0|0HG02717 : 0|0 |
0|0HG02723 : 0|0 |
0|0HG02818 : 0|0 |
0|0HG02886 : 0|0 |
0|0HG03098 : 0|0 |
1|0HG03453 : 1|0 |
0|0HG03486 : 0|0 |
0|0HG03492 : 0|0 |
1|0HG03516 : 1|0 |
0|0HG03540 : 0|0 |
0|0HG03579 : 0|0 |
0|0NA18906 : 0|0 |
0|0NA20129 : 0|0 |
0|0NA21309 : 0|0 |
|
NAACMG_class : NA AnnotSV_ranking_score : . AnnotSV_ranking_criteria : . |
INSSV_type : INS SV_length : 2817 Gene_count : 0 |
fullAnnotation_mode : full |
.Gene_name : . LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . Closest_left : PRSS54 Closest_right : GINS3 |
.Location : . CytoBand : q21 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_gain_phen : . po_P_gain_hpo : . po_P_gain_source : dbVar:nssv15158812; dbVar:nssv15148703; dbVar:nssv15150639; nssv15151292; dbVar:nssv15158813; dbVar:nssv15158224; dbVar:nssv15126469; dbVar:nssv15150356; dbVar:nssv17649855; dbVar:nssv18329628; dbVar:nssv17976066; dbVar:nssv15139966; dbVar:nssv15149003; dbVar:nssv15155487; dbVar:nssv15147081; dbVar:nssv15152203 po_P_gain_coord : 16:11452-90228224; 16:19194-90207973; 16:35882-90088654; 16:38166-90096867; 16:38166-90208287; 16:31974778-90228345; 16:34963122-64475151; 16:46385318-61223349; 16:46469662-62169278; 16:46470057-90088654; 16:49685522-68401712; 16:52899184-90088654; 16:54382139-72419367; 16:56883593-71279975; 16:57017562-89731261 po_P_gain_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00 po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15131864; dbVar:nssv18787057; nssv18788830; dbVar:nssv15155490; dbVar:nssv18787676 po_P_loss_coord : 16:55457478-63841622; 16:56192237-58734228; 16:56917030-60169686; 16:56982146-58734228 po_P_loss_percent : 0.00; 0.00; 0.00; 0.00 |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_gain_source : dbVar B_gain_coord : chr16:58336093-58594205 B_gain_AFmax : 0.01 B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_gain_allG_source : . po_B_gain_allG_coord : . po_B_gain_someG_source : . po_B_gain_someG_coord : chr16:58336093-58594205 dbVar po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 16:58370944-58371195 Repeat_type_left : L1ME4b Gap_left : . GC_content_left : 0.345 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 16:58370944-58371195 Repeat_type_right : L1ME4b Gap_right : . GC_content_right : 0.345 |
CHM13,HG02055Samples_ID : CHM13,HG02055 |
>63550913>63550915ID : >63550913>63550915 |
GREF : G |
GGAAAGTAAGTCTCGGTCTCCCTCTCCCTCTCCCTCTCCCTCTCC[...]ALT : GGAAAGTAAGTCTCGGTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCCCCCTCTCCCTCTCCCTCCCTCTCCGTCTCCGTCTCCGTCTCCGTCTCCCTCTCCCCACGGTCTCCCTCTCATGCGGAGCCGAAGCTGGACTGTACTGCTGCCATCTCGGCTCACTGCAACCTCCCTGCCTGATTCTCCTGCCTCAGCCTGCCAAGTGCCTGCGATTGCAGGCACGCGCCGCCACGCCTGACTGGTTTTGGTGGAGACGGGGTTTCGCTGTGTTGGCCGGGCCGGTCTCCAGCCCCTAACCGCGAGTGATCCGCCAACCTCGGCCTCCCGAGGTGCCGGGATTGCAGACGGAGTCTCGTTCACTCAGTGCTCAATAGTGCCCAGGCTGGAGTGCAGTGGCGTGATCTCCGCTCACTACAACCTCCACCTCCCAGCCGCCTGCCTTGGCCTCCCAAAGTGCCGAGATTGCAGCCTCTGCCTGGCCGCCACCCCCGTCTGGGAAGTGAGGAGTGTCTCTGCCTGGCCGCCCATCGTCTGGGATGTGAGGAGCCCCTCTGCCCGGCCGCCCAGTCTGGGAAGTGAGGAGCGTCTCCGCCCGGCCGCCATCCCATCTAGGAAGTGAGGAGCGCCTCTTCCCAGCCGCCATCACATCTAGGAAGTGAGGAGCGTCTCTGCCCGGCCGCCCATCGTCTGAGATGTGGGGAGCGCCTCTGCCCCACCGCCCCATCTGGGATGTGAGGAGCGCCTCTGCCCGGCCGAGACCCCGTCTGGGAGGTGAGGAGCGTCTCTGCCCGGCCGCCCCGTCTGAGAAGTGAGGAGACCCTCTGCCTGGCAACCACCCCGTCTGAGAAGTGAGGAGCCCCTCCGCCCGGCAGCTGCCCCGTCTGAGAAGTGAGGAGCCTCTCCGCCCAGCAGCCACCCCATCTGGGAAGTGAGGAGCATCTCCGCCCGGCAGCCACCCCGTCCGGGAGGGAGGTGAGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGTCAGCCCCCCGCCTGGCCAGCCGTGCCATCCGGGAGGGAGGTGGGGGGTCAGCCCCCCGCCTGGCCAGCCGTGCCATCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCGGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCTCCGCCCGGCCAGCCGCCCCGTCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGAGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGTGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCACCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGCGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCTGCCCCGTCCGCGAGGGAGGTGGGGGGGTCAGCCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGTCAGCCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGCGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGAGGGTCAGCCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAATGAGGAGCCCCTCTGCCTGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGCCCAGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCACCACCCCGTCTGGGAGGTGTGCCCAACAGCTCATTGAGAACGGGCCAGGATGACAATGGCGGCTTTGTGGAATAGAAAGGCGGGAAAGGTGGGGAAAAGATTGAGAAATCGGATGGTTGCCGTGTCTGTGTAGAAAGAAGTAGACATGGGAGACTTTTCATTTTGTTCTGCACTAAGAAAAATTCCTCTGCCTTGGGATCCTGTTGATCTGTGACCTTACCCCCAACCCTGTGCTCTCTGAAACATGTGCTGTGTCCACTCAGGGTTAAATGGATTAAGGGCGGTGCAAGATGTGCTTTGTTAAACAGATGCTTGAAGGCAGCATGCTCGTTAAGAGTCATCACCAATCCCTAATCTCAAGTAATCAGGGACACAAACACTGCGGAAGGCCGCAGGGTCCTCTGCCTAGGAAAACCAGAGACCTTTGTTCACTTGTTTATCTGCTGACCTTCCCTCCACTATTGTCCCATGACCCTGCCAAATCCCCCTCTGTGAGAAACACCCAAGAATTATCAATAAAAAAATAAATTAAAAAAAAAAAAAAAA |
60QUAL : 60 |
.FILTER : . |
AC=1; AF=0.011236; AN=89; AT=>63550913>[...]INFO : AC=1; AF=0.011236; AN=89; AT=>63550913>63550915,>63550913<63550914>63550915; LV=0; NS=45; e=58370995; s=2817; rC=Retroposon/SVA |
GTFORMAT : GT |
0CHM13 : 0 |
0|0HG00438 : 0|0 |
0|0HG00621 : 0|0 |
0|0HG00673 : 0|0 |
0|0HG00733 : 0|0 |
0|0HG00735 : 0|0 |
0|0HG00741 : 0|0 |
0|0HG01071 : 0|0 |
0|0HG01106 : 0|0 |
0|0HG01109 : 0|0 |
0|0HG01123 : 0|0 |
0|0HG01175 : 0|0 |
0|0HG01243 : 0|0 |
0|0HG01258 : 0|0 |
0|0HG01358 : 0|0 |
0|0HG01361 : 0|0 |
0|0HG01891 : 0|0 |
0|0HG01928 : 0|0 |
0|0HG01952 : 0|0 |
0|0HG01978 : 0|0 |
1|0HG02055 : 1|0 |
0|0HG02080 : 0|0 |
0|0HG02109 : 0|0 |
0|0HG02145 : 0|0 |
0|0HG02148 : 0|0 |
0|0HG02257 : 0|0 |
0|0HG02486 : 0|0 |
0|0HG02559 : 0|0 |
0|0HG02572 : 0|0 |
0|0HG02622 : 0|0 |
0|0HG02630 : 0|0 |
0|0HG02717 : 0|0 |
0|0HG02723 : 0|0 |
0|0HG02818 : 0|0 |
0|0HG02886 : 0|0 |
0|0HG03098 : 0|0 |
0|0HG03453 : 0|0 |
0|0HG03486 : 0|0 |
0|0HG03492 : 0|0 |
0|0HG03516 : 0|0 |
0|0HG03540 : 0|0 |
0|0HG03579 : 0|0 |
0|0NA18906 : 0|0 |
0|0NA20129 : 0|0 |
0|0NA21309 : 0|0 |
|
NAACMG_class : NA AnnotSV_ranking_score : . AnnotSV_ranking_criteria : . |
INSSV_type : INS SV_length : 1926 Gene_count : 0 |
fullAnnotation_mode : full |
.Gene_name : . LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . Closest_left : LOC440311 Closest_right : LOC105370989 |
.Location : . CytoBand : q26.2 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_gain_phen : . po_P_gain_hpo : . po_P_gain_source : dbVar:nssv15172447; dbVar:nssv15125410; dbVar:nssv15172190; dbVar:nssv15149616; dbVar:nssv15150618; nssv15150717; dbVar:nssv15151655; dbVar:nssv15148445; dbVar:nssv15147594; dbVar:nssv15146047; dbVar:nssv15147575; dbVar:nssv15155456; dbVar:nssv15148989; dbVar:nssv18842022; dbVar:nssv15150223; dbVar:nssv15127211; dbVar:nssv15152390; dbVar:nssv18329320; dbVar:nssv15147350; dbVar:nssv18792794; dbVar:nssv15148063; dbVar:nssv15145749; dbVar:nssv15150522; dbVar:nssv15145997; dbVar:nssv15149683; dbVar:nssv15148118; dbVar:nssv15149918; dbVar:nssv15160618; dbVar:nssv15147300; dbVar:nssv15148222; dbVar:nssv15154750; dbVar:nssv15142075; dbVar:nssv15128461; dbVar:nssv15145751; dbVar:nssv15172303; dbVar:nssv15777257; dbVar:nssv15149947; dbVar:nssv15148919; dbVar:nssv15146202; dbVar:nssv15140336 po_P_gain_coord : 15:19811559-101953337; 15:19858088-101981189; 15:19866421-101920959; 15:20528157-101971413; 15:23319715-101888909; 15:30822845-101814654; 15:41452887-101814595; 15:59005095-101940685; 15:59828461-101920998; 15:64345029-101969707; 15:71036882-101730555; 15:72154950-101920998; 15:74873150-101980689; 15:75768804-101888909; 15:77062334-97586813; 15:77186903-101888909; 15:77220476-101494824; 15:82859677-101810992; 15:83559254-101724387; 15:83711378-101843270; 15:84169154-101904929; 15:84546237-101955238; 15:85397540-101888909; 15:85605056-101971413; 15:85826666-101920998; 15:86355771-98190785; 15:87841920-101920959; 15:87904736-101843270; 15:88676576-98364743; 15:89200699-101888909; 15:89274271-101843270; 15:89274482-101904420; 15:89679238-101978958; 15:89733921-101836558; 15:89744945-101888909; 15:92605577-101888909; 15:93041525-101941326; 15:94033009-101843270; 15:94659221-98236665 po_P_gain_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00 po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15127755; dbVar:nssv15127602; dbVar:nssv16254726; dbVar:nssv16208431; dbVar:nssv15149575; dbVar:nssv15124429; dbVar:nssv17649872; dbVar:nssv15147236; dbVar:nssv15146790; dbVar:nssv17969025; dbVar:nssv15128195; dbVar:nssv15151294 po_P_loss_coord : 15:23377380-101981189; 15:28917418-101981189; 15:86418823-101981189; 15:86646015-101888909; 15:89803764-101814595; 15:91653907-101814654; 15:91792522-101859538; 15:93198718-101843270; 15:93805033-101326876; 15:94292900-100761906; 15:94470226-101981189; 15:94593594-101505374 po_P_loss_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . B_loss_source : dbVar B_loss_coord : chr15:94894836-94929206 B_loss_AFmax : 0.01 po_B_gain_allG_source : . po_B_gain_allG_coord : . po_B_gain_someG_source : . po_B_gain_someG_coord : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : chr15:94894836-94929206 dbVar |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 15:94921019-94921401 Repeat_type_left : MSTA Gap_left : . GC_content_left : 0.440 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 15:94921019-94921401 Repeat_type_right : MSTA Gap_right : . GC_content_right : 0.440 |
CHM13,HG01952Samples_ID : CHM13,HG01952 |
<61309280<61309278ID : <61309280<61309278 |
AREF : A |
AGTTCTAGATCCCTGAGGAATCGCCACACTGACTTCCACAATGGT[...]ALT : AGTTCTAGATCCCTGAGGAATCGCCACACTGACTTCCACAATGGTTGAACTAGTTTACAGTCCCACCAACAGTGTAAAAGTGTTCCTATTTCTCCGCATCCTCTCCAGCACCTGTTGTTTCCTGACTTTTTAATGATTGCCATTCTAACTGGTGTGAGATGATATCTCATAGTGGTTTTGATTTGCATTTCTCTGATGGCCAGTGATGATGAGCATTTCTTCATGTGTTTTTTGGCTGCATAAATGTCTTCTTTTGAGAAGTGTCTGTTCATGTCCTTCGCCCACTTTTTGATGGGGTTGTTTGTTTTTTTCTTGTAAATTTGTTTGAGTTCATTGTAGATTCTGGATATTAGCCCTTTGTCAGATGAGTAGGTTGCAAAAATTTTCTCCCATGTTGTAGGTTGCCTGTTCACTCTGATGGTAGTTTCTTTTGCTGTGCAGAAGCTCTTTAGTTTAATTAGATCCCATTTGTCAATTTTGTCTTTTGTTGCCATTGCTTTTGGTGTTTTGGACATGAAGTCCTTGCCCACGCCTATGTCCTGAATGGTAATGCCTAGGTTTTCTTCTAGGGTTTTTATGGTTTTAGGTTTAACGTTTAAATCTTTAATCCATCTTGAATTGATTTTTGTATAAGGTGTAAGGAAGGGATCCAGTTTCAGCTTTCTACATATGGCTAGCCAGTTTTCCCAGCACCATTTATTAAATAGGGAATCCTTTCCCCATTGCTTGTTTTTCTCAGGTTTGTCAAAGATCAGATAGTTGTAGATATGCGGCATTATTTCTGAGGGCTCTGTTCTGTTCCATTGATCTATATCTCTGTTTTGGTACCAGTACCATGCTGTTTTGGTTACCGTAGCCTTGTAGTATAGTTTGAAGTCAGGTAGTGTGATGCCTCCAGCTTTGTTCTTTTGGCTTAGGATTGACTTGGCAATGCGGGCTCTTTTTTGGTTCCATATGAACTTTAAAGTAGTTTTTTCCAATTCTGTGAAGAAAGTCATTGGTAGCTTGATGGGGATGGCATTGAATCTGTAAATTACCTTGGGCAGTATGGCCATTTTCACGATATTGATTCTTCCTACCCATGAGCATGGAATGTTCTTCCATTTGTTTGTCTCCTCTTTTATTTCCTTGAGCAGTGGTTTGTAGTTCTCCTTGAAGAGGTCCTTCACATCCCTTGTAAGTTGGATTCCTAGGTATTTTATTCTCTTTGAAGCAATTGTGAATGGGAGTTCACCCATGATCTGGCTCTCTGTTTGTCTGTTGTTGGTGTATAAGAATGCTTGTGATTTTTGTACATTGATTTTGTATCCTGAGACTTTGCTGAAGTTGCTTATCAGCTTAAGGAGATTTTGGGCTGACCCAAATGAGTATAAATCATGCTGCTATAAAGACACATGCACACGTATGTTTATTGCGGCACTATTCACAATAGCAAAGACTTGGAACCAACCCAAATGTCCAACAATGATAGACTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTATGCAGCCATAAAAAATGATGAGTTCATATCCTTTGTAGGGACATGGATGAAATTGGAAACCATCATTCTCAGTAAACTATCGCAAGAACAAAAAACCAAACACCGCATATTCTCACTCATAGGTGGGAATTGAACAATGAGATCACATGGACACAGGAAGGGGAATATCACACTCTGGGGACTGTGGTGGGGTCGGGGGAGGGGGGAGGGATAGCATTGGGAGATATACCTAATGCTAGATGACACATTAGTGGGTGCAGCGCACCAGCATGGCACATGTATACATATGTAACTAACCTGCACAATGTGCACATGTACCCTAAAACTTAGAGTATAATAAAAAAAAAAAATAATAATAATAATAATAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAACTCTA |
60QUAL : 60 |
.FILTER : . |
AC=1; AF=0.011236; AN=89; AT=>61309278>[...]INFO : AC=1; AF=0.011236; AN=89; AT=>61309278>61309280,>61309278>61309279>61309280; LV=0; NS=45; e=94921273; s=1926; rC=LINE/L1 |
GTFORMAT : GT |
0CHM13 : 0 |
0|0HG00438 : 0|0 |
0|0HG00621 : 0|0 |
0|0HG00673 : 0|0 |
0|0HG00733 : 0|0 |
0|0HG00735 : 0|0 |
0|0HG00741 : 0|0 |
0|0HG01071 : 0|0 |
0|0HG01106 : 0|0 |
0|0HG01109 : 0|0 |
0|0HG01123 : 0|0 |
0|0HG01175 : 0|0 |
0|0HG01243 : 0|0 |
0|0HG01258 : 0|0 |
0|0HG01358 : 0|0 |
0|0HG01361 : 0|0 |
0|0HG01891 : 0|0 |
0|0HG01928 : 0|0 |
1|0HG01952 : 1|0 |
0|0HG01978 : 0|0 |
0|0HG02055 : 0|0 |
0|0HG02080 : 0|0 |
0|0HG02109 : 0|0 |
0|0HG02145 : 0|0 |
0|0HG02148 : 0|0 |
0|0HG02257 : 0|0 |
0|0HG02486 : 0|0 |
0|0HG02559 : 0|0 |
0|0HG02572 : 0|0 |
0|0HG02622 : 0|0 |
0|0HG02630 : 0|0 |
0|0HG02717 : 0|0 |
0|0HG02723 : 0|0 |
0|0HG02818 : 0|0 |
0|0HG02886 : 0|0 |
0|0HG03098 : 0|0 |
0|0HG03453 : 0|0 |
0|0HG03486 : 0|0 |
0|0HG03492 : 0|0 |
0|0HG03516 : 0|0 |
0|0HG03540 : 0|0 |
0|0HG03579 : 0|0 |
0|0NA18906 : 0|0 |
0|0NA20129 : 0|0 |
0|0NA21309 : 0|0 |
|
NAACMG_class : NA AnnotSV_ranking_score : . AnnotSV_ranking_criteria : . |
INSSV_type : INS SV_length : 109 Gene_count : 0 |
fullAnnotation_mode : full |
.Gene_name : . LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . Closest_left : MIR1297 Closest_right : LOC105370213 |
.Location : . CytoBand : q14.3 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_gain_phen : . po_P_gain_hpo : . po_P_gain_source : dbVar:nssv17955548; nssv17976992; dbVar:nssv15161090; dbVar:nssv15172692; dbVar:nssv17059476; dbVar:nssv15162474; dbVar:nssv15161751; dbVar:nssv18326470; dbVar:nssv15161513; dbVar:nssv17969571; dbVar:nssv15161108; nssv15776345; nssv17957159; nssv17969572; dbVar:nssv15154678; dbVar:nssv15161661; nssv15161681; dbVar:nssv15161295; dbVar:nssv15161646; dbVar:nssv15161837; dbVar:nssv15161365; dbVar:nssv15161763; dbVar:nssv15161793; dbVar:nssv15161296; nssv15161378; dbVar:nssv15161514; dbVar:nssv15161263; nssv15161581; dbVar:nssv15146675; dbVar:nssv15161082; dbVar:nssv15161297; dbVar:nssv15161759; dbVar:nssv17956080; dbVar:nssv15161298; dbVar:nssv15161752; dbVar:nssv15154676; dbVar:nssv15161430 po_P_gain_coord : 13:18445863-114344403; 13:18456041-114340285; 13:18457098-114341682; 13:18479466-114343053; 13:18484578-114338054; 13:18565049-114327173; 13:18679709-114343462; 13:18850546-114327173; 13:18862147-114216251; 13:18862147-114342258; 13:18862147-73471322; 13:18862148-114342258; 13:18946183-114304628; 13:18997364-114327035; 13:18997364-114327094; 13:19671935-114340331; 13:19833131-114298614; 13:19833131-114327106; 13:19837396-114327173; 13:30318914-83610426; 13:31363473-90575292; 13:31553609-65470367; 13:32531487-86757044; 13:33528098-114327173; 13:41288494-85137552; 13:41930405-107553921; 13:44164752-114327173; 13:44733047-114327173; 13:51365215-66280534; 13:53358224-95934109 po_P_gain_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00 po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15161772; dbVar:nssv15146244; dbVar:nssv17969584; dbVar:nssv17969588; dbVar:nssv15147951; dbVar:nssv15147516; dbVar:nssv15161334; dbVar:nssv15161071; dbVar:nssv17969593; dbVar:nssv15161035; dbVar:nssv17955947; dbVar:nssv15161906; dbVar:nssv15161779; dbVar:nssv15153361; dbVar:nssv15147552; dbVar:nssv16208363; dbVar:nssv16208365; dbVar:nssv15161647 po_P_loss_coord : 13:18445863-114327173; 13:30697729-69471973; 13:32371984-62124084; 13:35802068-80107618; 13:36777319-62955876; 13:37864227-67963788; 13:40942299-114340331; 13:41143821-85137552; 13:41883706-91144444; 13:44967524-92738168; 13:45244912-63336079; 13:46968081-87381985; 13:47117588-84300935; 13:47651317-57496265; 13:47765203-62058520; 13:50938468-90978857; 13:52687879-114342258; 13:52977166-109198303 po_P_loss_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00 |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_gain_source : dbVar B_gain_coord : chr13:54395731-54427170 B_gain_AFmax : 0.01 B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_gain_allG_source : . po_B_gain_allG_coord : . po_B_gain_someG_source : . po_B_gain_someG_coord : chr13:54395731-54427170 dbVar po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 13:54407410-54413976 Repeat_type_left : L1PB1 Gap_left : . GC_content_left : 0.505 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 13:54407410-54413976 Repeat_type_right : L1PB1 Gap_right : . GC_content_right : 0.505 |
CHM13,HG00621,HG00673,HG01175,HG01258,HG01361[...]Samples_ID : CHM13,HG00621,HG00673,HG01175,HG01258,HG01361,HG01928,HG01978,HG02148 |
>57176418>57176420ID : >57176418>57176420 |
TREF : T |
TCGGCTCACAGGAAATCATATCCACAGGAAAATGGGGGAGAATAC[...]ALT : TCGGCTCACAGGAAATCATATCCACAGGAAAATGGGGGAGAATACAACACCTAGGGAACACCTCGTGAGACAAAAGAATCTGAACAAAAGCCTTCAGCCCTAGACCTTCC |
60QUAL : 60 |
.FILTER : . |
AC=9; AF=0.101124; AN=89; AT=>57176418>[...]INFO : AC=9; AF=0.101124; AN=89; AT=>57176418>57176420,>57176418<57176419>57176420; LV=1; NS=45; PS=>56763715>57588539; e=54408691; s=109; rC=LINE/L1 |
GTFORMAT : GT |
0CHM13 : 0 |
0|0HG00438 : 0|0 |
1|0HG00621 : 1|0 |
0|1HG00673 : 0|1 |
0|0HG00733 : 0|0 |
0|0HG00735 : 0|0 |
0|0HG00741 : 0|0 |
0|0HG01071 : 0|0 |
0|0HG01106 : 0|0 |
0|0HG01109 : 0|0 |
0|0HG01123 : 0|0 |
1|0HG01175 : 1|0 |
0|0HG01243 : 0|0 |
0|1HG01258 : 0|1 |
0|0HG01358 : 0|0 |
1|1HG01361 : 1|1 |
0|0HG01891 : 0|0 |
1|0HG01928 : 1|0 |
0|0HG01952 : 0|0 |
0|1HG01978 : 0|1 |
0|0HG02055 : 0|0 |
0|0HG02080 : 0|0 |
0|0HG02109 : 0|0 |
0|0HG02145 : 0|0 |
1|0HG02148 : 1|0 |
0|0HG02257 : 0|0 |
0|0HG02486 : 0|0 |
0|0HG02559 : 0|0 |
0|0HG02572 : 0|0 |
0|0HG02622 : 0|0 |
0|0HG02630 : 0|0 |
0|0HG02717 : 0|0 |
0|0HG02723 : 0|0 |
0|0HG02818 : 0|0 |
0|0HG02886 : 0|0 |
0|0HG03098 : 0|0 |
0|0HG03453 : 0|0 |
0|0HG03486 : 0|0 |
0|0HG03492 : 0|0 |
0|0HG03516 : 0|0 |
0|0HG03540 : 0|0 |
0|0HG03579 : 0|0 |
0|0NA18906 : 0|0 |
0|0NA20129 : 0|0 |
0|0NA21309 : 0|0 |
|
NAACMG_class : NA AnnotSV_ranking_score : . AnnotSV_ranking_criteria : . |
INSSV_type : INS SV_length : 310 Gene_count : 0 |
fullAnnotation_mode : full |
.Gene_name : . LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . Closest_left : LOC124902966 Closest_right : LINC02445 |
.Location : . CytoBand : q21.1 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_gain_phen : . po_P_gain_hpo : . po_P_gain_source : dbVar:nssv15161620; dbVar:nssv15161414; nssv15161422; dbVar:nssv15171852; dbVar:nssv15161798; dbVar:nssv15171855 po_P_gain_coord : 12:45741-133265309; 12:64622-133201316; 12:82454-133201059; 12:121272-133196807; 12:512055-133202532 po_P_gain_percent : 0.00; 0.00; 0.00; 0.00; 0.00 po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv17649865; dbVar:nssv15147301; dbVar:nssv15157811; dbVar:nssv17957078; dbVar:nssv15147333; dbVar:nssv15145687 po_P_loss_coord : 12:64857926-74869599; 12:68011418-75383054; 12:69214311-89235568; 12:69690697-76671984; 12:69769738-76964217; 12:70337485-81761145 po_P_loss_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00 |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_gain_source : dbVar B_gain_coord : chr12:73417111-73701709 B_gain_AFmax : 0.01 B_loss_source : dbVar B_loss_coord : chr12:73432624-73449218 B_loss_AFmax : 0.01 po_B_gain_allG_source : . po_B_gain_allG_coord : . po_B_gain_someG_source : . po_B_gain_someG_coord : chr12:73417111-73701709 dbVar po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : chr12:73432624-73449218 dbVar |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : . Repeat_type_left : . Gap_left : . GC_content_left : 0.300 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : . Repeat_type_right : . Gap_right : . GC_content_right : 0.305 |
CHM13,HG02572,HG02886,HG03098,HG03453,NA20129Samples_ID : CHM13,HG02572,HG02886,HG03098,HG03453,NA20129 |
>53976085>53976083ID : >53976085>53976083 |
TREF : T |
TTTCCTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACG[...]ALT : TTTCCTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGTTCTGTCGCCCAGGCGGGAGTGCTGTGGCGCAATCTCCGCTCACTGCAAGCTCCGCCTTCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACTGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCCCT |
60QUAL : 60 |
.FILTER : . |
AC=5; AF=0.0561798; AN=89; AT=>53976085>[...]INFO : AC=5; AF=0.0561798; AN=89; AT=>53976085>53976083,>53976085>53976084>53976083; LV=0; NS=45; e=73441308; s=310; rC=SINE/Alu |
GTFORMAT : GT |
0CHM13 : 0 |
0|0HG00438 : 0|0 |
0|0HG00621 : 0|0 |
0|0HG00673 : 0|0 |
0|0HG00733 : 0|0 |
0|0HG00735 : 0|0 |
0|0HG00741 : 0|0 |
0|0HG01071 : 0|0 |
0|0HG01106 : 0|0 |
0|0HG01109 : 0|0 |
0|0HG01123 : 0|0 |
0|0HG01175 : 0|0 |
0|0HG01243 : 0|0 |
0|0HG01258 : 0|0 |
0|0HG01358 : 0|0 |
0|0HG01361 : 0|0 |
0|0HG01891 : 0|0 |
0|0HG01928 : 0|0 |
0|0HG01952 : 0|0 |
0|0HG01978 : 0|0 |
0|0HG02055 : 0|0 |
0|0HG02080 : 0|0 |
0|0HG02109 : 0|0 |
0|0HG02145 : 0|0 |
0|0HG02148 : 0|0 |
0|0HG02257 : 0|0 |
0|0HG02486 : 0|0 |
0|0HG02559 : 0|0 |
1|0HG02572 : 1|0 |
0|0HG02622 : 0|0 |
0|0HG02630 : 0|0 |
0|0HG02717 : 0|0 |
0|0HG02723 : 0|0 |
0|0HG02818 : 0|0 |
1|0HG02886 : 1|0 |
1|0HG03098 : 1|0 |
1|0HG03453 : 1|0 |
0|0HG03486 : 0|0 |
0|0HG03492 : 0|0 |
0|0HG03516 : 0|0 |
0|0HG03540 : 0|0 |
0|0HG03579 : 0|0 |
0|0NA18906 : 0|0 |
1|0NA20129 : 1|0 |
0|0NA21309 : 0|0 |
|
NAACMG_class : NA AnnotSV_ranking_score : . AnnotSV_ranking_criteria : . |
INSSV_type : INS SV_length : 340 Gene_count : 0 |
fullAnnotation_mode : full |
.Gene_name : . LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . Closest_left : LRIG3-DT Closest_right : LINC02448 |
.Location : . CytoBand : q14.1 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_gain_phen : . po_P_gain_hpo : . po_P_gain_source : dbVar:nssv15161620; dbVar:nssv15161414; nssv15161422; dbVar:nssv15171852; dbVar:nssv15161798; dbVar:nssv15171855; dbVar:nssv16207144 po_P_gain_coord : 12:45741-133265309; 12:64622-133201316; 12:82454-133201059; 12:121272-133196807; 12:512055-133202532; 12:55158588-61732523 po_P_gain_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00 po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15133179; dbVar:nssv15133180 po_P_loss_coord : 12:57013356-63042498; 12:57041159-60273934 po_P_loss_percent : 0.00; 0.00 |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_gain_source : dbVar B_gain_coord : chr12:59262341-59610152; chr12:59417980-59610460 B_gain_AFmax : 0.01 B_loss_source : dbVar B_loss_coord : chr12:59440699-59490464; chr12:59445875-60579362 B_loss_AFmax : 0.01 po_B_gain_allG_source : . po_B_gain_allG_coord : . po_B_gain_someG_source : chr12:59417980-59610460 dbVar po_B_gain_someG_coord : chr12:59262341-59610152 dbVar po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : chr12:59445875-60579362 dbVar po_B_loss_someG_coord : chr12:59440699-59490464 dbVar |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : . Repeat_type_left : . Gap_left : . GC_content_left : 0.320 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : . Repeat_type_right : . Gap_right : . GC_content_right : 0.320 |
CHM13,HG01978Samples_ID : CHM13,HG01978 |
>53631250>53631252ID : >53631250>53631252 |
TREF : T |
TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGA[...]ALT : TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGTGGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTCTGTCAGAT |
60QUAL : 60 |
.FILTER : . |
AC=1; AF=0.011236; AN=89; AT=>53631250>[...]INFO : AC=1; AF=0.011236; AN=89; AT=>53631250>53631252,>53631250<53631251>53631252; LV=0; NS=45; e=59455200; s=340; rC=SINE/Alu |
GTFORMAT : GT |
0CHM13 : 0 |
0|0HG00438 : 0|0 |
0|0HG00621 : 0|0 |
0|0HG00673 : 0|0 |
0|0HG00733 : 0|0 |
0|0HG00735 : 0|0 |
0|0HG00741 : 0|0 |
0|0HG01071 : 0|0 |
0|0HG01106 : 0|0 |
0|0HG01109 : 0|0 |
0|0HG01123 : 0|0 |
0|0HG01175 : 0|0 |
0|0HG01243 : 0|0 |
0|0HG01258 : 0|0 |
0|0HG01358 : 0|0 |
0|0HG01361 : 0|0 |
0|0HG01891 : 0|0 |
0|0HG01928 : 0|0 |
0|0HG01952 : 0|0 |
1|0HG01978 : 1|0 |
0|0HG02055 : 0|0 |
0|0HG02080 : 0|0 |
0|0HG02109 : 0|0 |
0|0HG02145 : 0|0 |
0|0HG02148 : 0|0 |
0|0HG02257 : 0|0 |
0|0HG02486 : 0|0 |
0|0HG02559 : 0|0 |
0|0HG02572 : 0|0 |
0|0HG02622 : 0|0 |
0|0HG02630 : 0|0 |
0|0HG02717 : 0|0 |
0|0HG02723 : 0|0 |
0|0HG02818 : 0|0 |
0|0HG02886 : 0|0 |
0|0HG03098 : 0|0 |
0|0HG03453 : 0|0 |
0|0HG03486 : 0|0 |
0|0HG03492 : 0|0 |
0|0HG03516 : 0|0 |
0|0HG03540 : 0|0 |
0|0HG03579 : 0|0 |
0|0NA18906 : 0|0 |
0|0NA20129 : 0|0 |
0|0NA21309 : 0|0 |
|
NAACMG_class : NA AnnotSV_ranking_score : . AnnotSV_ranking_criteria : . |
INSSV_type : INS SV_length : 239 Gene_count : 0 |
fullAnnotation_mode : full |
.Gene_name : . LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . Closest_left : LOC105369787 Closest_right : LOC105369788 |
.Location : . CytoBand : q14.1 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_gain_phen : . po_P_gain_hpo : . po_P_gain_source : dbVar:nssv15161620; dbVar:nssv15161414; nssv15161422; dbVar:nssv15171852; dbVar:nssv15161798; dbVar:nssv15171855; dbVar:nssv16207144 po_P_gain_coord : 12:45741-133265309; 12:64622-133201316; 12:82454-133201059; 12:121272-133196807; 12:512055-133202532; 12:55158588-61732523 po_P_gain_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00 po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv18792789; dbVar:nssv15133179; dbVar:nssv15133180; dbVar:nssv16208342 po_P_loss_coord : 12:56670276-58920235; 12:57013356-63042498; 12:57041159-60273934; 12:57188381-58638197 po_P_loss_percent : 0.00; 0.00; 0.00; 0.00 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_gain_allG_source : . po_B_gain_allG_coord : . po_B_gain_someG_source : . po_B_gain_someG_coord : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : . Repeat_type_left : . Gap_left : . GC_content_left : 0.420 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : . Repeat_type_right : . Gap_right : . GC_content_right : 0.420 |
CHM13,HG01123,HG01361,HG02148,HG02486Samples_ID : CHM13,HG01123,HG01361,HG02148,HG02486 |
>53605522>53605524ID : >53605522>53605524 |
AREF : A |
AAAAAGTCAGGTCACCATCCCGGCTAAAACGGTGAAACCCCGTCT[...]ALT : AAAAAGTCAGGTCACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAGAAAAAAAAAAAAAAAAAAAAAAAA |
60QUAL : 60 |
.FILTER : . |
AC=5; AF=0.0561798; AN=89; AT=>53605522>[...]INFO : AC=5; AF=0.0561798; AN=89; AT=>53605522>53605524,>53605522<53605523>53605524; LV=0; NS=45; e=58367284; s=239; rC=SINE/Alu |
GTFORMAT : GT |
0CHM13 : 0 |
0|0HG00438 : 0|0 |
0|0HG00621 : 0|0 |
0|0HG00673 : 0|0 |
0|0HG00733 : 0|0 |
0|0HG00735 : 0|0 |
0|0HG00741 : 0|0 |
0|0HG01071 : 0|0 |
0|0HG01106 : 0|0 |
0|0HG01109 : 0|0 |
1|0HG01123 : 1|0 |
0|0HG01175 : 0|0 |
0|0HG01243 : 0|0 |
0|0HG01258 : 0|0 |
0|0HG01358 : 0|0 |
1|1HG01361 : 1|1 |
0|0HG01891 : 0|0 |
0|0HG01928 : 0|0 |
0|0HG01952 : 0|0 |
0|0HG01978 : 0|0 |
0|0HG02055 : 0|0 |
0|0HG02080 : 0|0 |
0|0HG02109 : 0|0 |
0|0HG02145 : 0|0 |
0|1HG02148 : 0|1 |
0|0HG02257 : 0|0 |
0|1HG02486 : 0|1 |
0|0HG02559 : 0|0 |
0|0HG02572 : 0|0 |
0|0HG02622 : 0|0 |
0|0HG02630 : 0|0 |
0|0HG02717 : 0|0 |
0|0HG02723 : 0|0 |
0|0HG02818 : 0|0 |
0|0HG02886 : 0|0 |
0|0HG03098 : 0|0 |
0|0HG03453 : 0|0 |
0|0HG03486 : 0|0 |
0|0HG03492 : 0|0 |
0|0HG03516 : 0|0 |
0|0HG03540 : 0|0 |
0|0HG03579 : 0|0 |
0|0NA18906 : 0|0 |
0|0NA20129 : 0|0 |
0|0NA21309 : 0|0 |
|
NAACMG_class : NA AnnotSV_ranking_score : . AnnotSV_ranking_criteria : . |
INSSV_type : INS SV_length : 321 Gene_count : 0 |
fullAnnotation_mode : full |
.Gene_name : . LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . Closest_left : LINC02403 Closest_right : LOC105369786 |
.Location : . CytoBand : q14.1 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_gain_phen : . po_P_gain_hpo : . po_P_gain_source : dbVar:nssv15161620; dbVar:nssv15161414; nssv15161422; dbVar:nssv15171852; dbVar:nssv15161798; dbVar:nssv15171855; dbVar:nssv16207144 po_P_gain_coord : 12:45741-133265309; 12:64622-133201316; 12:82454-133201059; 12:121272-133196807; 12:512055-133202532; 12:55158588-61732523 po_P_gain_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00 po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv18792789; dbVar:nssv15133179; dbVar:nssv15133180; dbVar:nssv16208342 po_P_loss_coord : 12:56670276-58920235; 12:57013356-63042498; 12:57041159-60273934; 12:57188381-58638197 po_P_loss_percent : 0.00; 0.00; 0.00; 0.00 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . B_loss_source : dbVar B_loss_coord : chr12:58163456-58173378; chr12:58166523-58170558 B_loss_AFmax : 0.01 po_B_gain_allG_source : . po_B_gain_allG_coord : . po_B_gain_someG_source : . po_B_gain_someG_coord : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : chr12:58166523-58170558 dbVar po_B_loss_someG_coord : chr12:58163456-58173378 dbVar |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : . Repeat_type_left : . Gap_left : . GC_content_left : 0.415 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : . Repeat_type_right : . Gap_right : . GC_content_right : 0.420 |
CHM13,HG00438Samples_ID : CHM13,HG00438 |
>53601743>53601745ID : >53601743>53601745 |
CREF : C |
CCCACTTCCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA[...]ALT : CCCACTTCCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAGGCGGAGCTTGCCGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAGAATC |
60QUAL : 60 |
.FILTER : . |
AC=1; AF=0.011236; AN=89; AT=>53601743>[...]INFO : AC=1; AF=0.011236; AN=89; AT=>53601743>53601745,>53601743<53601744>53601745; LV=0; NS=45; e=58167581; s=321; rC=SINE/Alu |
GTFORMAT : GT |
0CHM13 : 0 |
0|1HG00438 : 0|1 |
0|0HG00621 : 0|0 |
0|0HG00673 : 0|0 |
0|0HG00733 : 0|0 |
0|0HG00735 : 0|0 |
0|0HG00741 : 0|0 |
0|0HG01071 : 0|0 |
0|0HG01106 : 0|0 |
0|0HG01109 : 0|0 |
0|0HG01123 : 0|0 |
0|0HG01175 : 0|0 |
0|0HG01243 : 0|0 |
0|0HG01258 : 0|0 |
0|0HG01358 : 0|0 |
0|0HG01361 : 0|0 |
0|0HG01891 : 0|0 |
0|0HG01928 : 0|0 |
0|0HG01952 : 0|0 |
0|0HG01978 : 0|0 |
0|0HG02055 : 0|0 |
0|0HG02080 : 0|0 |
0|0HG02109 : 0|0 |
0|0HG02145 : 0|0 |
0|0HG02148 : 0|0 |
0|0HG02257 : 0|0 |
0|0HG02486 : 0|0 |
0|0HG02559 : 0|0 |
0|0HG02572 : 0|0 |
0|0HG02622 : 0|0 |
0|0HG02630 : 0|0 |
0|0HG02717 : 0|0 |
0|0HG02723 : 0|0 |
0|0HG02818 : 0|0 |
0|0HG02886 : 0|0 |
0|0HG03098 : 0|0 |
0|0HG03453 : 0|0 |
0|0HG03486 : 0|0 |
0|0HG03492 : 0|0 |
0|0HG03516 : 0|0 |
0|0HG03540 : 0|0 |
0|0HG03579 : 0|0 |
0|0NA18906 : 0|0 |
0|0NA20129 : 0|0 |
0|0NA21309 : 0|0 |
|
NAACMG_class : NA AnnotSV_ranking_score : . AnnotSV_ranking_criteria : . |
INSSV_type : INS SV_length : 156 Gene_count : 0 |
fullAnnotation_mode : full |
.Gene_name : . LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . Closest_left : B4GALNT1 Closest_right : OS9 |
.Location : . CytoBand : q13.3 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_gain_phen : . po_P_gain_hpo : . po_P_gain_source : dbVar:nssv15161620; dbVar:nssv15161414; nssv15161422; dbVar:nssv15171852; dbVar:nssv15161798; dbVar:nssv15171855; dbVar:nssv16207144 po_P_gain_coord : 12:45741-133265309; 12:64622-133201316; 12:82454-133201059; 12:121272-133196807; 12:512055-133202532; 12:55158588-61732523 po_P_gain_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00 po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv18792789; dbVar:nssv15133179; dbVar:nssv15133180; dbVar:nssv16208342; dbVar:nssv18330305 po_P_loss_coord : 12:56670276-58920235; 12:57013356-63042498; 12:57041159-60273934; 12:57188381-58638197; 12:57237291-57842814 po_P_loss_percent : 0.00; 0.00; 0.00; 0.00; 0.00 |
.P_snvindel_nb : . P_snvindel_phen : . |
IMHB_gain_source : IMH B_gain_coord : 12:57665138-57665376 B_gain_AFmax : 0.1219 B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_gain_allG_source : . po_B_gain_allG_coord : . po_B_gain_someG_source : . po_B_gain_someG_coord : 12:57665138-57665376 IMH po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 12:57664489-57666343 Repeat_type_left : SVA_A Gap_left : . GC_content_left : 0.700 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 12:57664489-57666343 Repeat_type_right : SVA_A Gap_right : . GC_content_right : 0.695 |
CHM13,HG00438,HG00621,HG00733,HG00735,HG00741[...]Samples_ID : CHM13,HG00438,HG00621,HG00733,HG00735,HG00741,HG01071,HG01106,HG01109,HG01123,HG01175,HG01243,HG01258,HG01358,HG01361,HG01891,HG01952,HG01978,HG02080,HG02109,HG02145,HG02148,HG02559,HG02622,HG02717,HG02723,HG03453,HG03486,HG03540,HG03579,NA20129 |
>53591075>53591077ID : >53591075>53591077 |
GREF : G |
GCTGCCCATCGTCTGGGAGGTGAGGAGCACTTCTGCCTGGCCGCC[...]ALT : GCTGCCCATCGTCTGGGAGGTGAGGAGCACTTCTGCCTGGCCGCCCCATCTAGGAAGTGAGGAGCACCTCTGCCCGGCCACCACCCCCTCTGGGAGGTGGGGAGCGCCTCTGCCTGGCCGCCGCCCCATCTGGGAAGTGAGGAGCGCCTCTGCCCGG |
60QUAL : 60 |
.FILTER : . |
AC=40; AF=0.449438; AN=89; AT=>53591075>[...]INFO : AC=40; AF=0.449438; AN=89; AT=>53591075>53591077,>53591075<53591076>53591077; LV=0; NS=45; e=57665347; s=156; rC=Retroposon/SVA |
GTFORMAT : GT |
1CHM13 : 1 |
0|1HG00438 : 0|1 |
0|1HG00621 : 0|1 |
0|0HG00673 : 0|0 |
1|1HG00733 : 1|1 |
1|1HG00735 : 1|1 |
1|0HG00741 : 1|0 |
1|1HG01071 : 1|1 |
0|1HG01106 : 0|1 |
1|0HG01109 : 1|0 |
1|1HG01123 : 1|1 |
1|1HG01175 : 1|1 |
1|1HG01243 : 1|1 |
1|1HG01258 : 1|1 |
1|0HG01358 : 1|0 |
0|1HG01361 : 0|1 |
0|1HG01891 : 0|1 |
0|0HG01928 : 0|0 |
0|1HG01952 : 0|1 |
1|0HG01978 : 1|0 |
0|0HG02055 : 0|0 |
1|0HG02080 : 1|0 |
0|1HG02109 : 0|1 |
0|1HG02145 : 0|1 |
1|1HG02148 : 1|1 |
0|0HG02257 : 0|0 |
0|0HG02486 : 0|0 |
0|1HG02559 : 0|1 |
0|0HG02572 : 0|0 |
1|0HG02622 : 1|0 |
0|0HG02630 : 0|0 |
1|0HG02717 : 1|0 |
0|1HG02723 : 0|1 |
0|0HG02818 : 0|0 |
0|0HG02886 : 0|0 |
0|0HG03098 : 0|0 |
1|0HG03453 : 1|0 |
1|0HG03486 : 1|0 |
0|0HG03492 : 0|0 |
0|0HG03516 : 0|0 |
0|1HG03540 : 0|1 |
1|0HG03579 : 1|0 |
0|0NA18906 : 0|0 |
1|1NA20129 : 1|1 |
0|0NA21309 : 0|0 |
|
NAACMG_class : NA AnnotSV_ranking_score : . AnnotSV_ranking_criteria : . |
INSSV_type : INS SV_length : 155 Gene_count : 0 |
fullAnnotation_mode : full |
.Gene_name : . LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . Closest_left : FDX1 Closest_right : ARHGAP20 |
.Location : . CytoBand : q22.3 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_gain_phen : . po_P_gain_hpo : . po_P_gain_source : dbVar:nssv15171978; dbVar:nssv15158476; dbVar:nssv15150306; nssv15150623; dbVar:nssv17976763; dbVar:nssv15153881; dbVar:nssv15146478; dbVar:nssv17955616; dbVar:nssv15127200 po_P_gain_coord : 11:70865-135068576; 11:198511-135064169; 11:230617-135068576; 11:32777936-135068576; 11:71877760-116810202; 11:100348600-135040246; 11:104418237-135067522; 11:106596869-114009007 po_P_gain_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00 po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv16867095; dbVar:nssv15157249; dbVar:nssv15125487; dbVar:nssv17173306; dbVar:nssv16208314; dbVar:nssv15776162; dbVar:nssv16208316; dbVar:nssv18330287 po_P_loss_coord : 11:11814023-118502397; 11:80342411-113445514; 11:88423396-114620616; 11:94420120-112094976; 11:103449338-114479065; 11:104230684-116810202; 11:105828874-114654154; 11:109458062-116544249 po_P_loss_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_gain_allG_source : . po_B_gain_allG_coord : . po_B_gain_someG_source : . po_B_gain_someG_coord : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 11:110523669-110523895 Repeat_type_left : MER112 Gap_left : . GC_content_left : 0.325 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 11:110523669-110523895 Repeat_type_right : MER112 Gap_right : . GC_content_right : 0.330 |
CHM13,HG01358,HG01952,HG02080Samples_ID : CHM13,HG01358,HG01952,HG02080 |
>50182241>50182244ID : >50182241>50182244 |
TCREF : TC |
TTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAG[...]ALT : TTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA |
60QUAL : 60 |
.FILTER : . |
AC=3; AF=0.0337079; AN=89; AT=>50182241>[...]INFO : AC=3; AF=0.0337079; AN=89; AT=>50182241>50182242>50182244,>50182241>50182243>50182244; LV=0; NS=45; e=110523823; s=156; rC=SINE/Alu |
GTFORMAT : GT |
0CHM13 : 0 |
0|0HG00438 : 0|0 |
0|0HG00621 : 0|0 |
0|0HG00673 : 0|0 |
0|0HG00733 : 0|0 |
0|0HG00735 : 0|0 |
0|0HG00741 : 0|0 |
0|0HG01071 : 0|0 |
0|0HG01106 : 0|0 |
0|0HG01109 : 0|0 |
0|0HG01123 : 0|0 |
0|0HG01175 : 0|0 |
0|0HG01243 : 0|0 |
0|0HG01258 : 0|0 |
1|0HG01358 : 1|0 |
0|0HG01361 : 0|0 |
0|0HG01891 : 0|0 |
0|0HG01928 : 0|0 |
0|1HG01952 : 0|1 |
0|0HG01978 : 0|0 |
0|0HG02055 : 0|0 |
0|1HG02080 : 0|1 |
0|0HG02109 : 0|0 |
0|0HG02145 : 0|0 |
0|0HG02148 : 0|0 |
0|0HG02257 : 0|0 |
0|0HG02486 : 0|0 |
0|0HG02559 : 0|0 |
0|0HG02572 : 0|0 |
0|0HG02622 : 0|0 |
0|0HG02630 : 0|0 |
0|0HG02717 : 0|0 |
0|0HG02723 : 0|0 |
0|0HG02818 : 0|0 |
0|0HG02886 : 0|0 |
0|0HG03098 : 0|0 |
0|0HG03453 : 0|0 |
0|0HG03486 : 0|0 |
0|0HG03492 : 0|0 |
0|0HG03516 : 0|0 |
0|0HG03540 : 0|0 |
0|0HG03579 : 0|0 |
0|0NA18906 : 0|0 |
0|0NA20129 : 0|0 |
0|0NA21309 : 0|0 |
|
NAACMG_class : NA AnnotSV_ranking_score : . AnnotSV_ranking_criteria : . |
INSSV_type : INS SV_length : 309 Gene_count : 0 |
fullAnnotation_mode : full |
.Gene_name : . LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . Closest_left : RCOR2 Closest_right : NAA40 |
.Location : . CytoBand : q13.1 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_gain_phen : . po_P_gain_hpo : . po_P_gain_source : dbVar:nssv15171978; dbVar:nssv15158476; dbVar:nssv15150306; nssv15150623; dbVar:nssv17976763 po_P_gain_coord : 11:70865-135068576; 11:198511-135064169; 11:230617-135068576; 11:32777936-135068576 po_P_gain_percent : 0.00; 0.00; 0.00; 0.00 po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv16867095; dbVar:nssv15148908 po_P_loss_coord : 11:11814023-118502397; 11:62893227-64335043 po_P_loss_percent : 0.00; 0.00 |
.P_snvindel_nb : . P_snvindel_phen : . |
HPRC:pbsv.INS.DUP.4740; HPRC:pbsv.SPLIT.DUP.4[...]B_gain_source : HPRC:pbsv.INS.DUP.4740; HPRC:pbsv.SPLIT.DUP.4738; gnomAD-SV_v3_DUP_chr11_37ad04e5 B_gain_coord : chr11:63931434-63934277; chr11:63931434-63934471; chr11:63931435-63934469 B_gain_AFmax : 0.6949 B_loss_source : gnomAD-SV_v3_DEL_chr11_d4c7c871 B_loss_coord : chr11:63931437-63934181 B_loss_AFmax : 0.8708 po_B_gain_allG_source : . po_B_gain_allG_coord : . po_B_gain_someG_source : chr11:63931434-63934471 HPRC:pbsv.SPLIT.DUP.4738; po_B_gain_someG_coord : chr11:63931434-63934277 gnomAD-SV_v3_DUP_chr11_37ad04e5; chr11:63931435-63934469 HPRC:pbsv.INS.DUP.4740 po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : chr11:63931437-63934181 gnomAD-SV_v3_DEL_chr11_d4c7c871 |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 11:63931117-63931441; 11:63931465-63931498; 11:63931500-63931767 Repeat_type_left : L2b; (TGTG)n; AluSz Gap_left : . GC_content_left : 0.540 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 11:63931117-63931441; 11:63931465-63931498; 11:63931500-63931767 Repeat_type_right : L2b; (TGTG)n; AluSz Gap_right : . GC_content_right : 0.545 |
CHM13,HG00438,HG00621,HG00673,HG00733,HG00735[...]Samples_ID : CHM13,HG00438,HG00621,HG00673,HG00733,HG00735,HG00741,HG01071,HG01106,HG01109,HG01123,HG01175,HG01243,HG01258,HG01358,HG01361,HG01891,HG01928,HG01952,HG01978,HG02080,HG02109,HG02145,HG02148,HG02257,HG02486,HG02559,HG02630,HG02717,HG02723,HG02818,HG02886,HG03098,HG03453,HG03486,HG03492,HG03516,HG03540,HG03579,NA20129,NA21309 |
>52081166>52081164ID : >52081166>52081164 |
GREF : G |
GATATTGCACCACTGCACTCCAGCCTGGGCATCAGAGCGAGACTC[...]ALT : GATATTGCACCACTGCACTCCAGCCTGGGCATCAGAGCGAGACTCCGTCTCAAAAAAGACAAGACAAGAAAAGAAATTTCTAGGCCGGGCGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACGAGATCAGGAGTTCAATACCAGCCTGGCCAAGATGGTGAAACCCTGTCTCTACTAAAAATACAAAAACATTAGCCAGGCATGGTGGCGGGTGCCTGTAATCCCAGCTACTGGGAAGGCTGAGGCAGAGAATTGCTTGAACCCAGGTCAGGGTACAAAAGGTCAG |
60QUAL : 60 |
.FILTER : . |
AC=64; AF=0.719101; AN=89; AT=>52081166>[...]INFO : AC=64; AF=0.719101; AN=89; AT=>52081166>52081164,>52081166<52081165>52081164; LV=0; NS=45; e=63931437; s=309; rC=SINE/Alu |
GTFORMAT : GT |
1CHM13 : 1 |
1|1HG00438 : 1|1 |
1|1HG00621 : 1|1 |
1|1HG00673 : 1|1 |
1|1HG00733 : 1|1 |
1|1HG00735 : 1|1 |
1|1HG00741 : 1|1 |
1|1HG01071 : 1|1 |
1|0HG01106 : 1|0 |
0|1HG01109 : 0|1 |
1|1HG01123 : 1|1 |
1|1HG01175 : 1|1 |
1|1HG01243 : 1|1 |
1|1HG01258 : 1|1 |
1|1HG01358 : 1|1 |
1|1HG01361 : 1|1 |
1|0HG01891 : 1|0 |
1|1HG01928 : 1|1 |
1|1HG01952 : 1|1 |
1|1HG01978 : 1|1 |
0|0HG02055 : 0|0 |
1|1HG02080 : 1|1 |
1|1HG02109 : 1|1 |
1|0HG02145 : 1|0 |
1|1HG02148 : 1|1 |
0|1HG02257 : 0|1 |
1|0HG02486 : 1|0 |
0|1HG02559 : 0|1 |
0|0HG02572 : 0|0 |
0|0HG02622 : 0|0 |
0|1HG02630 : 0|1 |
0|1HG02717 : 0|1 |
1|0HG02723 : 1|0 |
1|1HG02818 : 1|1 |
0|1HG02886 : 0|1 |
1|0HG03098 : 1|0 |
1|0HG03453 : 1|0 |
0|1HG03486 : 0|1 |
1|1HG03492 : 1|1 |
0|1HG03516 : 0|1 |
1|1HG03540 : 1|1 |
1|1HG03579 : 1|1 |
0|0NA18906 : 0|0 |
0|1NA20129 : 0|1 |
0|1NA21309 : 0|1 |
|
NAACMG_class : NA AnnotSV_ranking_score : . AnnotSV_ranking_criteria : . |
INSSV_type : INS SV_length : 406 Gene_count : 0 |
fullAnnotation_mode : full |
.Gene_name : . LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . Closest_left : NUP160 Closest_right : PTPRJ |
.Location : . CytoBand : p11.2 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_gain_phen : . po_P_gain_hpo : . po_P_gain_source : dbVar:nssv15171978; dbVar:nssv15158476; dbVar:nssv15150306; nssv15150623; dbVar:nssv17976763; dbVar:nssv15161088; dbVar:nssv17976823 po_P_gain_coord : 11:70865-135068576; 11:198511-135064169; 11:230617-135068576; 11:32777936-135068576; 11:42727556-49135735; 11:43586337-61699199 po_P_gain_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00 po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv16867095; dbVar:nssv15161548; dbVar:nssv15161319; dbVar:nssv15145672 po_P_loss_coord : 11:11814023-118502397; 11:39179253-49135735; 11:41118323-48643003; 11:46840455-48643003 po_P_loss_percent : 0.00; 0.00; 0.00; 0.00 |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_gain_source : dbVar B_gain_coord : chr11:47825976-47963425; chr11:47841676-48203541; chr11:47841947-48183448; chr11:47882431-47882826 B_gain_AFmax : 0.01 B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_gain_allG_source : . po_B_gain_allG_coord : . po_B_gain_someG_source : chr11:47841676-48203541 dbVar; chr11:47882431-47882826 dbVar po_B_gain_someG_coord : chr11:47825976-47963425 dbVar; chr11:47841947-48183448 dbVar po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 11:47882687-47882981 Repeat_type_left : AluSx4 Gap_left : . GC_content_left : 0.565 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 11:47882687-47882981 Repeat_type_right : AluSx4 Gap_right : . GC_content_right : 0.565 |
CHM13Samples_ID : CHM13 |
>51462413>51462415ID : >51462413>51462415 |
AREF : A |
AGGCGCCTGCCATCACGCCCAGCTAATTTTTTTTTTTTTTTGTAT[...]ALT : AGGCGCCTGCCATCACGCCCAGCTAATTTTTTTTTTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTAGCCAGGATGGTCTCTCTCGATTTGCTGACCTCGTGATCCGCCCGCCTTGGCCTCTCAAAATGCTGGGATTACAAGCATGAGCCACCGCGCCCGGCCTACCTGCAGGATTTTTTAACTTATGGAGGTGACTGCATGATGACATGGAGAAGTCCATGCCATTGAAATAATAATTAATTTATTATTATTTATTAATTTATTTATTTATTTTGAGATGGAGTCTCACTCTGTCACCAAGGCTGGAGTGCAGTGGCCAGATCTTGGCTCGCTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTTCTGCCTCAGCCTCCTGAGTAGCTGGGACTACA |
60QUAL : 60 |
.FILTER : . |
AC=1; AF=0.011236; AN=89; AT=>51462413>[...]INFO : AC=1; AF=0.011236; AN=89; AT=>51462413>51462415,>51462413>51462414>51462415; LV=0; NS=45; e=47882826; s=406; rC=SINE/Alu |
GTFORMAT : GT |
1CHM13 : 1 |
0|0HG00438 : 0|0 |
0|0HG00621 : 0|0 |
0|0HG00673 : 0|0 |
0|0HG00733 : 0|0 |
0|0HG00735 : 0|0 |
0|0HG00741 : 0|0 |
0|0HG01071 : 0|0 |
0|0HG01106 : 0|0 |
0|0HG01109 : 0|0 |
0|0HG01123 : 0|0 |
0|0HG01175 : 0|0 |
0|0HG01243 : 0|0 |
0|0HG01258 : 0|0 |
0|0HG01358 : 0|0 |
0|0HG01361 : 0|0 |
0|0HG01891 : 0|0 |
0|0HG01928 : 0|0 |
0|0HG01952 : 0|0 |
0|0HG01978 : 0|0 |
0|0HG02055 : 0|0 |
0|0HG02080 : 0|0 |
0|0HG02109 : 0|0 |
0|0HG02145 : 0|0 |
0|0HG02148 : 0|0 |
0|0HG02257 : 0|0 |
0|0HG02486 : 0|0 |
0|0HG02559 : 0|0 |
0|0HG02572 : 0|0 |
0|0HG02622 : 0|0 |
0|0HG02630 : 0|0 |
0|0HG02717 : 0|0 |
0|0HG02723 : 0|0 |
0|0HG02818 : 0|0 |
0|0HG02886 : 0|0 |
0|0HG03098 : 0|0 |
0|0HG03453 : 0|0 |
0|0HG03486 : 0|0 |
0|0HG03492 : 0|0 |
0|0HG03516 : 0|0 |
0|0HG03540 : 0|0 |
0|0HG03579 : 0|0 |
0|0NA18906 : 0|0 |
0|0NA20129 : 0|0 |
0|0NA21309 : 0|0 |
|
NAACMG_class : NA AnnotSV_ranking_score : . AnnotSV_ranking_criteria : . |
INSSV_type : INS SV_length : 181 Gene_count : 0 |
fullAnnotation_mode : full |
.Gene_name : . LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . Closest_left : LOC105376654 Closest_right : LOC105376655 |
.Location : . CytoBand : p11.2 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_gain_phen : . po_P_gain_hpo : . po_P_gain_source : dbVar:nssv15171978; dbVar:nssv15158476; dbVar:nssv15150306; nssv15150623; dbVar:nssv17976763; dbVar:nssv15161088; dbVar:nssv17976823 po_P_gain_coord : 11:70865-135068576; 11:198511-135064169; 11:230617-135068576; 11:32777936-135068576; 11:42727556-49135735; 11:43586337-61699199 po_P_gain_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00 po_P_loss_phen : 11p11.2 (Potocki-Shaffer syndrome) region (includes ALX4, EXT2) po_P_loss_hpo : . po_P_loss_source : dbVar:nssv16867095; dbVar:nssv15161504; dbVar:nssv15161548; dbVar:nssv17957277; dbVar:nssv15161319; dbVar:nssv15161569; HI3:ISCA-37441; dbVar:nssv15161276 po_P_loss_coord : 11:11814023-118502397; 11:35663579-46959820; 11:39179253-49135735; 11:40095596-46899167; 11:41118323-48643003; 11:42553660-46114792; 11:43873251-46130899; 11:44136594-46121139 po_P_loss_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00 |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_gain_source : dbVar B_gain_coord : chr11:45391407-45565765 B_gain_AFmax : 0.01 B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_gain_allG_source : . po_B_gain_allG_coord : . po_B_gain_someG_source : . po_B_gain_someG_coord : chr11:45391407-45565765 dbVar po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 11:45546443-45546782 Repeat_type_left : MLT1B Gap_left : . GC_content_left : 0.430 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 11:45546443-45546782 Repeat_type_right : MLT1B Gap_right : . GC_content_right : 0.430 |
CHM13,HG00733,HG00735,HG01952,HG02148Samples_ID : CHM13,HG00733,HG00735,HG01952,HG02148 |
>51422038>51422040ID : >51422038>51422040 |
TREF : T |
TTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCG[...]ALT : TTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTGGCTCCTTTT |
60QUAL : 60 |
.FILTER : . |
AC=5; AF=0.0561798; AN=89; AT=>51422038>[...]INFO : AC=5; AF=0.0561798; AN=89; AT=>51422038>51422040,>51422038>51422039>51422040; LV=0; NS=45; e=45546444; s=181; rC=SINE/Alu |
GTFORMAT : GT |
0CHM13 : 0 |
0|0HG00438 : 0|0 |
0|0HG00621 : 0|0 |
0|0HG00673 : 0|0 |
1|1HG00733 : 1|1 |
0|1HG00735 : 0|1 |
0|0HG00741 : 0|0 |
0|0HG01071 : 0|0 |
0|0HG01106 : 0|0 |
0|0HG01109 : 0|0 |
0|0HG01123 : 0|0 |
0|0HG01175 : 0|0 |
0|0HG01243 : 0|0 |
0|0HG01258 : 0|0 |
0|0HG01358 : 0|0 |
0|0HG01361 : 0|0 |
0|0HG01891 : 0|0 |
0|0HG01928 : 0|0 |
0|1HG01952 : 0|1 |
0|0HG01978 : 0|0 |
0|0HG02055 : 0|0 |
0|0HG02080 : 0|0 |
0|0HG02109 : 0|0 |
0|0HG02145 : 0|0 |
1|0HG02148 : 1|0 |
0|0HG02257 : 0|0 |
0|0HG02486 : 0|0 |
0|0HG02559 : 0|0 |
0|0HG02572 : 0|0 |
0|0HG02622 : 0|0 |
0|0HG02630 : 0|0 |
0|0HG02717 : 0|0 |
0|0HG02723 : 0|0 |
0|0HG02818 : 0|0 |
0|0HG02886 : 0|0 |
0|0HG03098 : 0|0 |
0|0HG03453 : 0|0 |
0|0HG03486 : 0|0 |
0|0HG03492 : 0|0 |
0|0HG03516 : 0|0 |
0|0HG03540 : 0|0 |
0|0HG03579 : 0|0 |
0|0NA18906 : 0|0 |
0|0NA20129 : 0|0 |
0|0NA21309 : 0|0 |
|
NAACMG_class : NA AnnotSV_ranking_score : . AnnotSV_ranking_criteria : . |
INSSV_type : INS SV_length : 299 Gene_count : 0 |
fullAnnotation_mode : full |
.Gene_name : . LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . Closest_left : SYT13 Closest_right : LINC02696 |
.Location : . CytoBand : p11.2 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_gain_phen : . po_P_gain_hpo : . po_P_gain_source : dbVar:nssv15171978; dbVar:nssv15158476; dbVar:nssv15150306; nssv15150623; dbVar:nssv17976763; dbVar:nssv15161088; dbVar:nssv17976823 po_P_gain_coord : 11:70865-135068576; 11:198511-135064169; 11:230617-135068576; 11:32777936-135068576; 11:42727556-49135735; 11:43586337-61699199 po_P_gain_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00 po_P_loss_phen : 11p11.2 (Potocki-Shaffer syndrome) region (includes ALX4, EXT2) po_P_loss_hpo : . po_P_loss_source : dbVar:nssv16867095; dbVar:nssv15161504; dbVar:nssv15161548; dbVar:nssv17957277; dbVar:nssv15161319; dbVar:nssv15161569; HI3:ISCA-37441; dbVar:nssv15161276 po_P_loss_coord : 11:11814023-118502397; 11:35663579-46959820; 11:39179253-49135735; 11:40095596-46899167; 11:41118323-48643003; 11:42553660-46114792; 11:43873251-46130899; 11:44136594-46121139 po_P_loss_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . B_loss_source : gnomAD-SV_v3_DEL_chr11_d545ba9d B_loss_coord : chr11:45293705-45293836 B_loss_AFmax : 0.1279 po_B_gain_allG_source : . po_B_gain_allG_coord : . po_B_gain_someG_source : . po_B_gain_someG_coord : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : chr11:45293705-45293836 gnomAD-SV_v3_DEL_chr11_d545ba9d |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 11:45293519-45293652 Repeat_type_left : L1ME3A Gap_left : . GC_content_left : 0.455 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 11:45293519-45293652 Repeat_type_right : L1ME3A Gap_right : . GC_content_right : 0.450 |
CHM13,HG00438,HG00733,HG01106,HG01258,HG02148Samples_ID : CHM13,HG00438,HG00733,HG01106,HG01258,HG02148 |
>51416674>51416676ID : >51416674>51416676 |
TREF : T |
TTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGT[...]ALT : TTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGGCATTTTT |
60QUAL : 60 |
.FILTER : . |
AC=7; AF=0.0786517; AN=89; AT=>51416674>[...]INFO : AC=7; AF=0.0786517; AN=89; AT=>51416674>51416676,>51416674>51416675>51416676; LV=0; NS=45; e=45293705; s=299; rC=SINE/Alu |
GTFORMAT : GT |
0CHM13 : 0 |
0|1HG00438 : 0|1 |
0|0HG00621 : 0|0 |
0|0HG00673 : 0|0 |
1|1HG00733 : 1|1 |
0|0HG00735 : 0|0 |
0|0HG00741 : 0|0 |
0|0HG01071 : 0|0 |
1|1HG01106 : 1|1 |
0|0HG01109 : 0|0 |
0|0HG01123 : 0|0 |
0|0HG01175 : 0|0 |
0|0HG01243 : 0|0 |
0|1HG01258 : 0|1 |
0|0HG01358 : 0|0 |
0|0HG01361 : 0|0 |
0|0HG01891 : 0|0 |
0|0HG01928 : 0|0 |
0|0HG01952 : 0|0 |
0|0HG01978 : 0|0 |
0|0HG02055 : 0|0 |
0|0HG02080 : 0|0 |
0|0HG02109 : 0|0 |
0|0HG02145 : 0|0 |
1|0HG02148 : 1|0 |
0|0HG02257 : 0|0 |
0|0HG02486 : 0|0 |
0|0HG02559 : 0|0 |
0|0HG02572 : 0|0 |
0|0HG02622 : 0|0 |
0|0HG02630 : 0|0 |
0|0HG02717 : 0|0 |
0|0HG02723 : 0|0 |
0|0HG02818 : 0|0 |
0|0HG02886 : 0|0 |
0|0HG03098 : 0|0 |
0|0HG03453 : 0|0 |
0|0HG03486 : 0|0 |
0|0HG03492 : 0|0 |
0|0HG03516 : 0|0 |
0|0HG03540 : 0|0 |
0|0HG03579 : 0|0 |
0|0NA18906 : 0|0 |
0|0NA20129 : 0|0 |
0|0NA21309 : 0|0 |
|
NAACMG_class : NA AnnotSV_ranking_score : . AnnotSV_ranking_criteria : . |
INSSV_type : INS SV_length : 111 Gene_count : 0 |
fullAnnotation_mode : full |
.Gene_name : . LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . Closest_left : LOC101926887 Closest_right : IFIT1B |
.Location : . CytoBand : q23.31 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
LIPA (morbid/RE=GH_enhancer); RE_gene : LIPA (morbid/RE=GH_enhancer); |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_gain_phen : . po_P_gain_hpo : . po_P_gain_source : dbVar:nssv15171419; dbVar:nssv15161644; dbVar:nssv15171420; dbVar:nssv15161670; nssv15161864; dbVar:nssv18830975; dbVar:nssv15153829 po_P_gain_coord : 10:27297-133786996; 10:47358-133565414; 10:52148-133740558; 10:54088-133613639; 10:11096730-133613639; 10:67280609-91435236 po_P_gain_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00 po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv18830989; dbVar:nssv15125151; dbVar:nssv18329495; dbVar:nssv15152295; dbVar:nssv18326418; dbVar:nssv16253902; dbVar:nssv18330784; dbVar:nssv16213461 po_P_loss_coord : 10:12787208-133613639; 10:79925607-133787422; 10:80835717-91782659; 10:81619486-91459412; 10:81773905-90153320; 10:86925631-90384539; 10:88063391-94297184; 10:89338662-89612048 po_P_loss_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . B_loss_source : dbVar; gnomAD-SV_v3_DEL_chr10_e433cf8f; gnomAD-SV_v3_DEL_chr10_f70efaa2 B_loss_coord : chr10:53764413-94620402; chr10:59459006-109812369; chr10:89347243-89363802 B_loss_AFmax : 0.3941 po_B_gain_allG_source : . po_B_gain_allG_coord : . po_B_gain_someG_source : . po_B_gain_someG_coord : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : chr10:59459006-109812369 gnomAD-SV_v3_DEL_chr10_f70efaa2; po_B_loss_someG_coord : chr10:53764413-94620402 gnomAD-SV_v3_DEL_chr10_e433cf8f; chr10:89347243-89363802 dbVar |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 10:89350206-89350315; 10:89350316-89350604 Repeat_type_left : LTR15; AluSx3 Gap_left : . GC_content_left : 0.480 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 10:89350206-89350315; 10:89350316-89350604 Repeat_type_right : LTR15; AluSx3 Gap_right : . GC_content_right : 0.485 |
CHM13,HG00438,HG00621,HG00673,HG00741,HG01071[...]Samples_ID : CHM13,HG00438,HG00621,HG00673,HG00741,HG01071,HG01258,HG01928,HG02080,HG02148,HG02622,HG02723,HG03579,NA18906 |
>45145136>45145138ID : >45145136>45145138 |
CREF : C |
CTTTTTTTTTTTTTTTTTTTTGAGAAGGAGTCTCGCTCTGTCGCC[...]ALT : CTTTTTTTTTTTTTTTTTTTTGAGAAGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATACC |
60QUAL : 60 |
.FILTER : . |
AC=15; AF=0.168539; AN=89; AT=>45145136>[...]INFO : AC=15; AF=0.168539; AN=89; AT=>45145136>45145138,>45145136>45145137>45145138; LV=0; NS=45; e=89350315; s=111; rC=SINE/Alu |
GTFORMAT : GT |
0CHM13 : 0 |
1|1HG00438 : 1|1 |
1|1HG00621 : 1|1 |
1|0HG00673 : 1|0 |
0|0HG00733 : 0|0 |
0|0HG00735 : 0|0 |
0|1HG00741 : 0|1 |
1|0HG01071 : 1|0 |
0|0HG01106 : 0|0 |
0|0HG01109 : 0|0 |
0|0HG01123 : 0|0 |
0|0HG01175 : 0|0 |
0|0HG01243 : 0|0 |
0|1HG01258 : 0|1 |
0|0HG01358 : 0|0 |
0|0HG01361 : 0|0 |
0|0HG01891 : 0|0 |
0|1HG01928 : 0|1 |
0|0HG01952 : 0|0 |
0|0HG01978 : 0|0 |
0|0HG02055 : 0|0 |
0|1HG02080 : 0|1 |
0|0HG02109 : 0|0 |
0|0HG02145 : 0|0 |
1|0HG02148 : 1|0 |
0|0HG02257 : 0|0 |
0|0HG02486 : 0|0 |
0|0HG02559 : 0|0 |
0|0HG02572 : 0|0 |
1|0HG02622 : 1|0 |
0|0HG02630 : 0|0 |
0|0HG02717 : 0|0 |
0|1HG02723 : 0|1 |
0|0HG02818 : 0|0 |
0|0HG02886 : 0|0 |
0|0HG03098 : 0|0 |
0|0HG03453 : 0|0 |
0|0HG03486 : 0|0 |
0|0HG03492 : 0|0 |
0|0HG03516 : 0|0 |
0|0HG03540 : 0|0 |
1|0HG03579 : 1|0 |
1|0NA18906 : 1|0 |
0|0NA20129 : 0|0 |
0|0NA21309 : 0|0 |
|
NAACMG_class : NA AnnotSV_ranking_score : . AnnotSV_ranking_criteria : . |
INSSV_type : INS SV_length : 673 Gene_count : 0 |
fullAnnotation_mode : full |
.Gene_name : . LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . Closest_left : LOC124902550 Closest_right : LOC105378400 |
.Location : . CytoBand : q23.1 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_gain_phen : . po_P_gain_hpo : . po_P_gain_source : dbVar:nssv15171419; dbVar:nssv15161644; dbVar:nssv15171420; dbVar:nssv15161670; nssv15161864; dbVar:nssv18830975; dbVar:nssv15148838; dbVar:nssv15153829; dbVar:nssv18842026; dbVar:nssv15146468; dbVar:nssv15153825; dbVar:nssv15146534 po_P_gain_coord : 10:27297-133786996; 10:47358-133565414; 10:52148-133740558; 10:54088-133613639; 10:11096730-133613639; 10:50729368-87147204; 10:67280609-91435236; 10:79851605-87504365; 10:79881239-87182117; 10:79884324-87213549; 10:84434982-89150802 po_P_gain_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00 po_P_loss_phen : 10q22.3q23.2 recurrent region (includes BMPR1A) po_P_loss_hpo : . po_P_loss_source : dbVar:nssv18830989; dbVar:nssv15147538; dbVar:nssv16254802; dbVar:nssv15146421; dbVar:nssv15146697; dbVar:nssv15147099; dbVar:nssv16254684; dbVar:nssv15150664; dbVar:nssv15150278; nssv16208280; dbVar:nssv16254801; dbVar:nssv17976899; dbVar:nssv15146755; dbVar:nssv15147101; dbVar:nssv15146424; dbVar:nssv15147104; dbVar:nssv15147103; HI3:ISCA-37424; dbVar:nssv15125151; dbVar:nssv15148042; dbVar:nssv15606039; dbVar:nssv15149559; dbVar:nssv15150260; dbVar:nssv18329495; dbVar:nssv15152295; dbVar:nssv18326418 po_P_loss_coord : 10:12787208-133613639; 10:79689361-87223773; 10:79697997-87493673; 10:79719430-87358394; 10:79802023-87068261; 10:79802023-87358394; 10:79825546-87341943; 10:79838012-87191590; 10:79857505-87221204; 10:79857505-87387023; 10:79870713-87221204; 10:79881239-87180672; 10:79882163-87068261; 10:79898517-86964367; 10:79898517-87109827; 10:79898517-87358394; 10:79923088-86979631; 10:79925607-133787422; 10:79925614-86951708; 10:79938056-87009090; 10:80132656-86963195; 10:80253505-87406698; 10:80835717-91782659; 10:81619486-91459412; 10:81773905-90153320 po_P_loss_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00 |
.P_snvindel_nb : . P_snvindel_phen : . |
IMHB_gain_source : IMH B_gain_coord : 10:84732954-84733750 B_gain_AFmax : 0.0331 B_loss_source : gnomAD-SV_v3_DEL_chr10_e433cf8f; gnomAD-SV_v3_DEL_chr10_f70efaa2 B_loss_coord : chr10:53764413-94620402; chr10:59459006-109812369 B_loss_AFmax : 0.3941 po_B_gain_allG_source : . po_B_gain_allG_coord : . po_B_gain_someG_source : . po_B_gain_someG_coord : 10:84732954-84733750 IMH po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : chr10:59459006-109812369 gnomAD-SV_v3_DEL_chr10_f70efaa2 po_B_loss_someG_coord : chr10:53764413-94620402 gnomAD-SV_v3_DEL_chr10_e433cf8f |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 10:84733226-84733899 Repeat_type_left : L1PA6 Gap_left : . GC_content_left : 0.440 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 10:84733226-84733899 Repeat_type_right : L1PA6 Gap_right : . GC_content_right : 0.440 |
CHM13,HG00621,HG00733,HG01123,HG02148,HG03492Samples_ID : CHM13,HG00621,HG00733,HG01123,HG02148,HG03492 |
>48086213>48086211ID : >48086213>48086211 |
TREF : T |
TCATTAAGGACAGAAAACCAAACACCACACCTTCTCACTCATAGG[...]ALT : TCATTAAGGACAGAAAACCAAACACCACACCTTCTCACTCATAGGTGGGAATTGAACAATGAGAACACATGGACACAGGAAGGGGAACATCACACATGGGGGACTGTTGTGGGTTTGGGGGAGGGGGGAGGGATAGCATTAGGAGATATACCTAATGCTAAATGACGAGTTAATGGGTACAGCACACCAACATGGCACATGTATACATATGTAACAAACCTGCACTTTGTGCACATGTATCCTAAAACTTAAAGTATAATAAAAAAAAAAGTCAGGAAACAACAGGTGCTGGAGAGGATGTGGACAAATAGGAACACTTTTACACTGTTGGTGGGACTGTAAACTACTTCAACCATTGTGGAAGTCAGTGTGGCAATTCCTCAGGGATCTAGAACTAGAAATACCATTTGACCCAGCCATCCCATTACTGGGTATATACCCAAAGGATTCTAAATCATGTTACTGTAAAGACACACGCATACATATGTTTATTGCGGCACTATTCACAATAGCAAAAACTTGGAACCAACCCAGATGTCCTTCAATGATAGACTGGATTAAGAAAATGTGGCACATATACGCCATGGAATGCTATGCAGCCATAAAAAGGGATGAGTTAATGTCCTTTGCAGGGACATGGATGAAGCTCAAAACCATCATTCTAAGCAAAATAT |
60QUAL : 60 |
.FILTER : . |
AC=5; AF=0.0561798; AN=89; AT=>48086213>[...]INFO : AC=5; AF=0.0561798; AN=89; AT=>48086213>48086211,>48086213<48086212>48086211; LV=0; NS=45; e=84733634; s=673; rC=LINE/L1 |
GTFORMAT : GT |
0CHM13 : 0 |
0|0HG00438 : 0|0 |
0|1HG00621 : 0|1 |
0|0HG00673 : 0|0 |
1|0HG00733 : 1|0 |
0|0HG00735 : 0|0 |
0|0HG00741 : 0|0 |
0|0HG01071 : 0|0 |
0|0HG01106 : 0|0 |
0|0HG01109 : 0|0 |
0|1HG01123 : 0|1 |
0|0HG01175 : 0|0 |
0|0HG01243 : 0|0 |
0|0HG01258 : 0|0 |
0|0HG01358 : 0|0 |
0|0HG01361 : 0|0 |
0|0HG01891 : 0|0 |
0|0HG01928 : 0|0 |
0|0HG01952 : 0|0 |
0|0HG01978 : 0|0 |
0|0HG02055 : 0|0 |
0|0HG02080 : 0|0 |
0|0HG02109 : 0|0 |
0|0HG02145 : 0|0 |
0|1HG02148 : 0|1 |
0|0HG02257 : 0|0 |
0|0HG02486 : 0|0 |
0|0HG02559 : 0|0 |
0|0HG02572 : 0|0 |
0|0HG02622 : 0|0 |
0|0HG02630 : 0|0 |
0|0HG02717 : 0|0 |
0|0HG02723 : 0|0 |
0|0HG02818 : 0|0 |
0|0HG02886 : 0|0 |
0|0HG03098 : 0|0 |
0|0HG03453 : 0|0 |
0|0HG03486 : 0|0 |
0|1HG03492 : 0|1 |
0|0HG03516 : 0|0 |
0|0HG03540 : 0|0 |
0|0HG03579 : 0|0 |
0|0NA18906 : 0|0 |
0|0NA20129 : 0|0 |
0|0NA21309 : 0|0 |
|
NAACMG_class : NA AnnotSV_ranking_score : . AnnotSV_ranking_criteria : . |
INSSV_type : INS SV_length : 209 Gene_count : 0 |
fullAnnotation_mode : full |
.Gene_name : . LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . Closest_left : LINC02650 Closest_right : LOC107984181 |
.Location : . CytoBand : q23.1 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_gain_phen : . po_P_gain_hpo : . po_P_gain_source : dbVar:nssv15171419; dbVar:nssv15161644; dbVar:nssv15171420; dbVar:nssv15161670; nssv15161864; dbVar:nssv18830975; dbVar:nssv15148838; dbVar:nssv15153829; dbVar:nssv18842026; dbVar:nssv15146468; dbVar:nssv15153825 po_P_gain_coord : 10:27297-133786996; 10:47358-133565414; 10:52148-133740558; 10:54088-133613639; 10:11096730-133613639; 10:50729368-87147204; 10:67280609-91435236; 10:79851605-87504365; 10:79881239-87182117; 10:79884324-87213549 po_P_gain_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00 po_P_loss_phen : 10q22.3q23.2 recurrent region (includes BMPR1A) po_P_loss_hpo : . po_P_loss_source : dbVar:nssv18830989; dbVar:nssv15147538; dbVar:nssv16254802; dbVar:nssv15146421; dbVar:nssv15146697; dbVar:nssv15147099; dbVar:nssv16254684; dbVar:nssv15150664; dbVar:nssv15150278; nssv16208280; dbVar:nssv16254801; dbVar:nssv17976899; dbVar:nssv15146755; dbVar:nssv15147101; dbVar:nssv15146424; dbVar:nssv15147104; dbVar:nssv15147103; HI3:ISCA-37424; dbVar:nssv15125151; dbVar:nssv15148042; dbVar:nssv15606039; dbVar:nssv15149559; dbVar:nssv15150260; dbVar:nssv18329495; dbVar:nssv15152295; dbVar:nssv18326418 po_P_loss_coord : 10:12787208-133613639; 10:79689361-87223773; 10:79697997-87493673; 10:79719430-87358394; 10:79802023-87068261; 10:79802023-87358394; 10:79825546-87341943; 10:79838012-87191590; 10:79857505-87221204; 10:79857505-87387023; 10:79870713-87221204; 10:79881239-87180672; 10:79882163-87068261; 10:79898517-86964367; 10:79898517-87109827; 10:79898517-87358394; 10:79923088-86979631; 10:79925607-133787422; 10:79925614-86951708; 10:79938056-87009090; 10:80132656-86963195; 10:80253505-87406698; 10:80835717-91782659; 10:81619486-91459412; 10:81773905-90153320 po_P_loss_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00 |
.P_snvindel_nb : . P_snvindel_phen : . |
CMRI:0_pbsv.INS.DUP.1239; HPRC:pbsv.INS.DUP.6[...]B_gain_source : CMRI:0_pbsv.INS.DUP.1239; HPRC:pbsv.INS.DUP.6890; IMH; gnomAD-SV_v3_DUP_chr10_008676ef B_gain_coord : 10:83907422-83907708; chr10:83907451-83907659; 10:83907452-83907658; chr10:83907452-83907658 B_gain_AFmax : 0.7371 B_loss_source : dbVar; gnomAD-SV_v3_DEL_chr10_e433cf8f; gnomAD-SV_v3_DEL_chr10_f70efaa2 B_loss_coord : chr10:53764413-94620402; chr10:59459006-109812369; chr10:83906250-83911577 B_loss_AFmax : 0.3941 po_B_gain_allG_source : . po_B_gain_allG_coord : . po_B_gain_someG_source : chr10:83907451-83907659 gnomAD-SV_v3_DUP_chr10_008676ef; chr10:83907452-83907658 HPRC:pbsv.INS.DUP.6890 po_B_gain_someG_coord : 10:83907422-83907708 IMH; 10:83907452-83907658 CMRI:0_pbsv.INS.DUP.1239 po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : chr10:59459006-109812369 gnomAD-SV_v3_DEL_chr10_f70efaa2; po_B_loss_someG_coord : chr10:53764413-94620402 gnomAD-SV_v3_DEL_chr10_e433cf8f; chr10:83906250-83911577 dbVar |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 10:83907141-83907661; 10:83907671-83907726 Repeat_type_left : LTR69; MLT1G Gap_left : . GC_content_left : 0.360 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 10:83907141-83907661; 10:83907671-83907726 Repeat_type_right : LTR69; MLT1G Gap_right : . GC_content_right : 0.355 |
CHM13,HG00621,HG00673,HG00741,HG01106,HG01175[...]Samples_ID : CHM13,HG00621,HG00673,HG00741,HG01106,HG01175,HG01258,HG01361,HG01928,HG01952,HG01978,HG02055,HG02080,HG02145,HG02148,HG02486,HG02559,HG02622,HG02818,HG02886,HG03492,HG03540,NA20129,NA21309 |
>48105735>48105732ID : >48105735>48105732 |
CREF : C |
CTATAATCTAAGCTGTTCTTGTAAGGGGAAGCTTTATTTTAAGGT[...]ALT : CTATAATCTAAGCTGTTCTTGTAAGGGGAAGCTTTATTTTAAGGTTCATGATAGTTGGATCTGTGCTGAGGTGGTCTTGCCTCCTGGAAATCTCCAGTCTAGGCTGCATGACACTGCTAAGTGACACATAGGGTAGGCCCTACAAGATATTTGCAAGGGCCTTATGGCTGTCATTATTCTTATAGTCACAATATGTCTATTATAGTATAC |
60QUAL : 60 |
.FILTER : . |
AC=34; AF=0.382022; AN=89; AT=>48105735>[...]INFO : AC=34; AF=0.382022; AN=89; AT=>48105735>48105732,>48105735>48105734>48105733>48105732; LV=0; NS=45; e=83907657; s=209; rC=LTR/ERV |
GTFORMAT : GT |
1CHM13 : 1 |
0|0HG00438 : 0|0 |
1|1HG00621 : 1|1 |
1|1HG00673 : 1|1 |
0|0HG00733 : 0|0 |
0|0HG00735 : 0|0 |
1|1HG00741 : 1|1 |
0|0HG01071 : 0|0 |
1|0HG01106 : 1|0 |
0|0HG01109 : 0|0 |
0|0HG01123 : 0|0 |
1|1HG01175 : 1|1 |
0|0HG01243 : 0|0 |
1|0HG01258 : 1|0 |
0|0HG01358 : 0|0 |
0|1HG01361 : 0|1 |
0|0HG01891 : 0|0 |
0|1HG01928 : 0|1 |
1|0HG01952 : 1|0 |
1|1HG01978 : 1|1 |
0|1HG02055 : 0|1 |
1|0HG02080 : 1|0 |
0|0HG02109 : 0|0 |
0|1HG02145 : 0|1 |
0|1HG02148 : 0|1 |
0|0HG02257 : 0|0 |
1|0HG02486 : 1|0 |
1|1HG02559 : 1|1 |
0|0HG02572 : 0|0 |
1|1HG02622 : 1|1 |
0|0HG02630 : 0|0 |
0|0HG02717 : 0|0 |
0|0HG02723 : 0|0 |
0|1HG02818 : 0|1 |
0|1HG02886 : 0|1 |
0|0HG03098 : 0|0 |
0|0HG03453 : 0|0 |
0|0HG03486 : 0|0 |
1|1HG03492 : 1|1 |
0|0HG03516 : 0|0 |
1|1HG03540 : 1|1 |
0|0HG03579 : 0|0 |
0|0NA18906 : 0|0 |
1|0NA20129 : 1|0 |
1|1NA21309 : 1|1 |
|
NAACMG_class : NA AnnotSV_ranking_score : . AnnotSV_ranking_criteria : . |
INSSV_type : INS SV_length : 138 Gene_count : 0 |
fullAnnotation_mode : full |
.Gene_name : . LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . Closest_left : LINC02640 Closest_right : PBLD |
.Location : . CytoBand : q21.3 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_gain_phen : . po_P_gain_hpo : . po_P_gain_source : dbVar:nssv15171419; dbVar:nssv15161644; dbVar:nssv15171420; dbVar:nssv15161670; nssv15161864; dbVar:nssv18830975; dbVar:nssv15148014; dbVar:nssv15148838; dbVar:nssv15132882; dbVar:nssv15153829 po_P_gain_coord : 10:27297-133786996; 10:47358-133565414; 10:52148-133740558; 10:54088-133613639; 10:11096730-133613639; 10:42685307-73715908; 10:50729368-87147204; 10:67196568-79422057; 10:67280609-91435236 po_P_gain_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00 po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv18830989; dbVar:nssv15146419; dbVar:nssv15134816; dbVar:nssv15151903; dbVar:nssv17969411 po_P_loss_coord : 10:12787208-133613639; 10:58436467-74415216; 10:63402580-75296099; 10:66634654-68913719; 10:66975497-77125956 po_P_loss_percent : 0.00; 0.00; 0.00; 0.00; 0.00 |
.P_snvindel_nb : . P_snvindel_phen : . |
CMRI:18_pbsv.INS.DUP.1366_duplicate1; HPRC:pb[...]B_gain_source : CMRI:18_pbsv.INS.DUP.1366_duplicate1; HPRC:pbsv.INS.DUP.6027; dbVar B_gain_coord : chr10:67503885-68318029; chr10:68099008-68297411; chr10:68214112-68304911; 10:68262322-68262458; chr10:68262322-68262458 B_gain_AFmax : 0.1845 B_loss_source : dbVar; gnomAD-SV_v3_DEL_chr10_a13546d2; gnomAD-SV_v3_DEL_chr10_e433cf8f; gnomAD-SV_v3_DEL_chr10_f70efaa2 B_loss_coord : chr10:37996824-76847693; chr10:53764413-94620402; chr10:59459006-109812369; chr10:68255059-68266255 B_loss_AFmax : 0.3941 po_B_gain_allG_source : . po_B_gain_allG_coord : . po_B_gain_someG_source : chr10:68099008-68297411 dbVar; 10:68262322-68262458 CMRI:18_pbsv.INS.DUP.1366_duplicate1; po_B_gain_someG_coord : chr10:67503885-68318029 dbVar; chr10:68214112-68304911 dbVar; chr10:68262322-68262458 HPRC:pbsv.INS.DUP.6027 po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : chr10:53764413-94620402 gnomAD-SV_v3_DEL_chr10_e433cf8f; chr10:68255059-68266255 dbVar po_B_loss_someG_coord : chr10:37996824-76847693 gnomAD-SV_v3_DEL_chr10_a13546d2; chr10:59459006-109812369 gnomAD-SV_v3_DEL_chr10_f70efaa2 |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 10:68262282-68262580 Repeat_type_left : AluY Gap_left : . GC_content_left : 0.530 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 10:68262282-68262580 Repeat_type_right : AluY Gap_right : . GC_content_right : 0.535 |
CHM13,HG00438,HG00621,HG00735,HG01123,HG01361[...]Samples_ID : CHM13,HG00438,HG00621,HG00735,HG01123,HG01361,HG01928,HG01952,HG01978,HG02109,HG02148,HG03492,NA21309 |
>44942997>44942999ID : >44942997>44942999 |
AREF : A |
AAAAATATACAAAAAATTAGCCGGGCATGGTGGTGGGCACCTGTA[...]ALT : AAAAATATACAAAAAATTAGCCGGGCATGGTGGTGGGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGCAGATCACGAGGTCAGGAGATTGAGACCATCCTGGCTAACACAGTGAAACCCCATCTCTACTAAA |
60QUAL : 60 |
.FILTER : . |
AC=14; AF=0.157303; AN=89; AT=>44942997>[...]INFO : AC=14; AF=0.157303; AN=89; AT=>44942997>44942999,>44942997>44942998>44942999; LV=0; NS=45; e=68262402; s=138; rC=SINE/Alu |
GTFORMAT : GT |
0CHM13 : 0 |
1|0HG00438 : 1|0 |
0|1HG00621 : 0|1 |
0|0HG00673 : 0|0 |
0|0HG00733 : 0|0 |
0|1HG00735 : 0|1 |
0|0HG00741 : 0|0 |
0|0HG01071 : 0|0 |
0|0HG01106 : 0|0 |
0|0HG01109 : 0|0 |
0|1HG01123 : 0|1 |
0|0HG01175 : 0|0 |
0|0HG01243 : 0|0 |
0|0HG01258 : 0|0 |
0|0HG01358 : 0|0 |
1|0HG01361 : 1|0 |
0|0HG01891 : 0|0 |
1|1HG01928 : 1|1 |
1|0HG01952 : 1|0 |
0|1HG01978 : 0|1 |
0|0HG02055 : 0|0 |
0|0HG02080 : 0|0 |
0|1HG02109 : 0|1 |
0|0HG02145 : 0|0 |
0|1HG02148 : 0|1 |
0|0HG02257 : 0|0 |
0|0HG02486 : 0|0 |
0|0HG02559 : 0|0 |
0|0HG02572 : 0|0 |
0|0HG02622 : 0|0 |
0|0HG02630 : 0|0 |
0|0HG02717 : 0|0 |
0|0HG02723 : 0|0 |
0|0HG02818 : 0|0 |
0|0HG02886 : 0|0 |
0|0HG03098 : 0|0 |
0|0HG03453 : 0|0 |
0|0HG03486 : 0|0 |
1|1HG03492 : 1|1 |
0|0HG03516 : 0|0 |
0|0HG03540 : 0|0 |
0|0HG03579 : 0|0 |
0|0NA18906 : 0|0 |
0|0NA20129 : 0|0 |
0|1NA21309 : 0|1 |
|
NAACMG_class : NA AnnotSV_ranking_score : . AnnotSV_ranking_criteria : . |
INSSV_type : INS SV_length : 335 Gene_count : 0 |
fullAnnotation_mode : full |
.Gene_name : . LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . Closest_left : FAM240B Closest_right : LOC105376043 |
.Location : . CytoBand : p13.1 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_gain_phen : . po_P_gain_hpo : . po_P_gain_source : dbVar:nssv18326406; dbVar:nssv15169725; dbVar:nssv15168486; dbVar:nssv15168487; dbVar:nssv15128159; dbVar:nssv15127267; dbVar:nssv15148581; dbVar:nssv15146662; dbVar:nssv15148460; dbVar:nssv15168488; dbVar:nssv15150554; dbVar:nssv15146972; dbVar:nssv15147684; dbVar:nssv15146549; dbVar:nssv15147470; dbVar:nssv15145918; nssv15147428; dbVar:nssv15146171; nssv15148277; dbVar:nssv15145821; dbVar:nssv15148068; dbVar:nssv15148988; dbVar:nssv18326363; dbVar:nssv15777263; dbVar:nssv15148176; dbVar:nssv15151115; nssv15153772; nssv17970346; dbVar:nssv15151575; dbVar:nssv15777272; nssv17976989; dbVar:nssv15153773; nssv17970347; nssv17976995; dbVar:nssv16208211; dbVar:nssv15153774; dbVar:nssv15151576; dbVar:nssv17970348; dbVar:nssv15151855; dbVar:nssv15145998; dbVar:nssv15146780; nssv15152141; dbVar:nssv15147478; dbVar:nssv15147388; dbVar:nssv15148881; dbVar:nssv15147961; dbVar:nssv15146173; nssv15146806; dbVar:nssv15146953; dbVar:nssv15146966; dbVar:nssv15606053; dbVar:nssv15146486; dbVar:nssv17970351; dbVar:nssv15138086; dbVar:nssv15138360; dbVar:nssv15137488; dbVar:nssv15776689; dbVar:nssv15131984 po_P_gain_coord : 9:10002-39445729; 9:10591-138217222; 9:10591-138223645; 9:10591-138231797; 9:12935-138262981; 9:12935-66233120; 9:13998-68304962; 9:13998-68401065; 9:32397-39140214; 9:46588-138172039; 9:62526-138111955; 9:163132-138231664; 9:163132-38763961; 9:193413-138114463; 9:193413-138124524; 9:193413-138159073; 9:193413-138179445; 9:193413-70630731; 9:193413-74615913; 9:193413-79877816; 9:203862-128840944; 9:203862-138125936; 9:203862-138125937; 9:203862-38787483; 9:203862-67915728; 9:203862-67919519; 9:203862-67920552; 9:203862-68369672; 9:203862-68370879; 9:203862-70102877; 9:203862-81540484; 9:203862-85574998; 9:203862-88130444; 9:203863-138125937; 9:204105-38768294; 9:204105-66233120; 9:204105-67549861; 9:204194-138179445; 9:204194-38815478; 9:213162-39092823; 9:213162-66233120; 9:214310-39156961; 9:220254-38815419; 9:353350-138125937; 9:18344606-68257015; 9:28975664-38787483; 9:31426828-68257015; 9:34542638-67920552; 9:35623501-38815474 po_P_gain_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00 po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv17683411; dbVar:nssv17683433; dbVar:nssv17683444 po_P_loss_coord : 9:36088567-39092823; 9:36419497-39445729; 9:36426626-38787482 po_P_loss_percent : 0.00; 0.00; 0.00 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . B_loss_source : dbVar; gnomAD-SV_v3_DEL_chr9_cfa52761 B_loss_coord : chr9:12951494-85461681; chr9:38647003-38814003 B_loss_AFmax : 0.2226 po_B_gain_allG_source : . po_B_gain_allG_coord : . po_B_gain_someG_source : . po_B_gain_someG_coord : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : chr9:38647003-38814003 dbVar po_B_loss_someG_coord : chr9:12951494-85461681 gnomAD-SV_v3_DEL_chr9_cfa52761 |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : . Repeat_type_left : . Gap_left : . GC_content_left : 0.370 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : . Repeat_type_right : . Gap_right : . GC_content_right : 0.375 |
CHM13,HG03098,HG03516Samples_ID : CHM13,HG03098,HG03516 |
>44516616>44516618ID : >44516616>44516618 |
GREF : G |
GGGTCTCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACT[...]ALT : GGGTCTCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATGAG |
60QUAL : 60 |
.FILTER : . |
AC=2; AF=0.0224719; AN=89; AT=>44516616>[...]INFO : AC=2; AF=0.0224719; AN=89; AT=>44516616>44516618,>44516616>44516617>44516618; LV=0; NS=45; e=38746422; s=335; rC=SINE/Alu |
GTFORMAT : GT |
0CHM13 : 0 |
0|0HG00438 : 0|0 |
0|0HG00621 : 0|0 |
0|0HG00673 : 0|0 |
0|0HG00733 : 0|0 |
0|0HG00735 : 0|0 |
0|0HG00741 : 0|0 |
0|0HG01071 : 0|0 |
0|0HG01106 : 0|0 |
0|0HG01109 : 0|0 |
0|0HG01123 : 0|0 |
0|0HG01175 : 0|0 |
0|0HG01243 : 0|0 |
0|0HG01258 : 0|0 |
0|0HG01358 : 0|0 |
0|0HG01361 : 0|0 |
0|0HG01891 : 0|0 |
0|0HG01928 : 0|0 |
0|0HG01952 : 0|0 |
0|0HG01978 : 0|0 |
0|0HG02055 : 0|0 |
0|0HG02080 : 0|0 |
0|0HG02109 : 0|0 |
0|0HG02145 : 0|0 |
0|0HG02148 : 0|0 |
0|0HG02257 : 0|0 |
0|0HG02486 : 0|0 |
0|0HG02559 : 0|0 |
0|0HG02572 : 0|0 |
0|0HG02622 : 0|0 |
0|0HG02630 : 0|0 |
0|0HG02717 : 0|0 |
0|0HG02723 : 0|0 |
0|0HG02818 : 0|0 |
0|0HG02886 : 0|0 |
0|1HG03098 : 0|1 |
0|0HG03453 : 0|0 |
0|0HG03486 : 0|0 |
0|0HG03492 : 0|0 |
1|0HG03516 : 1|0 |
0|0HG03540 : 0|0 |
0|0HG03579 : 0|0 |
0|0NA18906 : 0|0 |
0|0NA20129 : 0|0 |
0|0NA21309 : 0|0 |
|
NAACMG_class : NA AnnotSV_ranking_score : . AnnotSV_ranking_criteria : . |
INSSV_type : INS SV_length : 313 Gene_count : 0 |
fullAnnotation_mode : full |
.Gene_name : . LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . Closest_left : SMU1 Closest_right : B4GALT1 |
.Location : . CytoBand : p21.1 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_gain_phen : . po_P_gain_hpo : . po_P_gain_source : dbVar:nssv18326406; dbVar:nssv15169725; dbVar:nssv15168486; dbVar:nssv15168487; dbVar:nssv15128159; dbVar:nssv15127267; dbVar:nssv15148581; dbVar:nssv15146662; dbVar:nssv15148460; dbVar:nssv15168488; dbVar:nssv15150554; dbVar:nssv15146972; dbVar:nssv15147684; dbVar:nssv15146549; dbVar:nssv15147470; dbVar:nssv15145918; nssv15147428; dbVar:nssv15146171; nssv15148277; dbVar:nssv15145821; dbVar:nssv15148068; dbVar:nssv15148988; dbVar:nssv18326363; dbVar:nssv15777263; dbVar:nssv15148176; dbVar:nssv17976764; dbVar:nssv15148245; dbVar:nssv15777248; dbVar:nssv15151115; nssv15153772; nssv17970346; dbVar:nssv15151575; dbVar:nssv15777272; nssv17976989; dbVar:nssv15153773; nssv17970347; nssv17976995; dbVar:nssv16208211; dbVar:nssv15153774; dbVar:nssv15151576; dbVar:nssv17970348; dbVar:nssv15151855; dbVar:nssv15145998; dbVar:nssv15146780; nssv15152141; dbVar:nssv15147475; dbVar:nssv15147478; dbVar:nssv15147388; dbVar:nssv15148881; dbVar:nssv15147961; dbVar:nssv15146547; dbVar:nssv15146218; dbVar:nssv15146173; nssv15146806; dbVar:nssv15146953; dbVar:nssv15146966; dbVar:nssv15606053; dbVar:nssv15146486; dbVar:nssv17970351; dbVar:nssv17970355; dbVar:nssv15147380; dbVar:nssv15142058; dbVar:nssv15138086; dbVar:nssv15138360; dbVar:nssv15137488; dbVar:nssv16254389 po_P_gain_coord : 9:10002-39445729; 9:10591-138217222; 9:10591-138223645; 9:10591-138231797; 9:12935-138262981; 9:12935-66233120; 9:13998-68304962; 9:13998-68401065; 9:32397-39140214; 9:46588-138172039; 9:62526-138111955; 9:163132-138231664; 9:163132-38763961; 9:193413-138114463; 9:193413-138124524; 9:193413-138159073; 9:193413-138179445; 9:193413-70630731; 9:193413-74615913; 9:193413-79877816; 9:203862-128840944; 9:203862-138125936; 9:203862-138125937; 9:203862-35903401; 9:203862-38381642; 9:203862-38472982; 9:203862-38787483; 9:203862-67915728; 9:203862-67919519; 9:203862-67920552; 9:203862-68369672; 9:203862-68370879; 9:203862-70102877; 9:203862-81540484; 9:203862-85574998; 9:203862-88130444; 9:203863-138125937; 9:204105-34151476; 9:204105-38768294; 9:204105-66233120; 9:204105-67549861; 9:204194-138179445; 9:204194-33284638; 9:204194-38741440; 9:204194-38815478; 9:213162-39092823; 9:213162-66233120; 9:214310-39156961; 9:220254-38815419; 9:353350-138125937; 9:676265-33743672; 9:7162305-37038771; 9:17132126-35567054; 9:18344606-68257015; 9:28975664-38787483; 9:31426828-68257015; 9:32192409-38311779 po_P_gain_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00 po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : . po_P_loss_coord : . po_P_loss_percent : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . B_loss_source : gnomAD-SV_v3_DEL_chr9_cfa52761 B_loss_coord : chr9:12951494-85461681 B_loss_AFmax : 0.2226 po_B_gain_allG_source : . po_B_gain_allG_coord : . po_B_gain_someG_source : . po_B_gain_someG_coord : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : chr9:12951494-85461681 gnomAD-SV_v3_DEL_chr9_cfa52761 |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 9:33092656-33093295 Repeat_type_left : L1MEg Gap_left : . GC_content_left : 0.345 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 9:33092656-33093295 Repeat_type_right : L1MEg Gap_right : . GC_content_right : 0.345 |
CHM13,HG02717Samples_ID : CHM13,HG02717 |
>42397870>42397868ID : >42397870>42397868 |
AREF : A |
AATCTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCT[...]ALT : AATCTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCTGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGAGAAA |
60QUAL : 60 |
.FILTER : . |
AC=1; AF=0.011236; AN=89; AT=>42397870>[...]INFO : AC=1; AF=0.011236; AN=89; AT=>42397870>42397868,>42397870>42397869>42397868; LV=0; NS=45; e=33093072; s=313; rC=SINE/Alu |
GTFORMAT : GT |
0CHM13 : 0 |
0|0HG00438 : 0|0 |
0|0HG00621 : 0|0 |
0|0HG00673 : 0|0 |
0|0HG00733 : 0|0 |
0|0HG00735 : 0|0 |
0|0HG00741 : 0|0 |
0|0HG01071 : 0|0 |
0|0HG01106 : 0|0 |
0|0HG01109 : 0|0 |
0|0HG01123 : 0|0 |
0|0HG01175 : 0|0 |
0|0HG01243 : 0|0 |
0|0HG01258 : 0|0 |
0|0HG01358 : 0|0 |
0|0HG01361 : 0|0 |
0|0HG01891 : 0|0 |
0|0HG01928 : 0|0 |
0|0HG01952 : 0|0 |
0|0HG01978 : 0|0 |
0|0HG02055 : 0|0 |
0|0HG02080 : 0|0 |
0|0HG02109 : 0|0 |
0|0HG02145 : 0|0 |
0|0HG02148 : 0|0 |
0|0HG02257 : 0|0 |
0|0HG02486 : 0|0 |
0|0HG02559 : 0|0 |
0|0HG02572 : 0|0 |
0|0HG02622 : 0|0 |
0|0HG02630 : 0|0 |
1|0HG02717 : 1|0 |
0|0HG02723 : 0|0 |
0|0HG02818 : 0|0 |
0|0HG02886 : 0|0 |
0|0HG03098 : 0|0 |
0|0HG03453 : 0|0 |
0|0HG03486 : 0|0 |
0|0HG03492 : 0|0 |
0|0HG03516 : 0|0 |
0|0HG03540 : 0|0 |
0|0HG03579 : 0|0 |
0|0NA18906 : 0|0 |
0|0NA20129 : 0|0 |
0|0NA21309 : 0|0 |
|
NAACMG_class : NA AnnotSV_ranking_score : . AnnotSV_ranking_criteria : . |
INSSV_type : INS SV_length : 304 Gene_count : 0 |
fullAnnotation_mode : full |
.Gene_name : . LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . Closest_left : LOC105375709 Closest_right : LOC105375710 |
.Location : . CytoBand : q23.3 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_gain_phen : . po_P_gain_hpo : . po_P_gain_source : dbVar:nssv15169207; dbVar:nssv15128680; dbVar:nssv15161801; nssv15777239; nssv17976962; dbVar:nssv15161417; nssv15161657; dbVar:nssv15161846; dbVar:nssv15169210; dbVar:nssv15161105; dbVar:nssv15161269; dbVar:nssv15161748; dbVar:nssv15161087; dbVar:nssv15161426; dbVar:nssv15161357; dbVar:nssv15777249; dbVar:nssv15161797; dbVar:nssv18326351; dbVar:nssv17970300; dbVar:nssv15161337; dbVar:nssv18330266; dbVar:nssv15161103; dbVar:nssv17977109; dbVar:nssv15161374; dbVar:nssv15154586; dbVar:nssv15161674; dbVar:nssv15161669; dbVar:nssv15161773; dbVar:nssv15161791; dbVar:nssv15161680; dbVar:nssv15161065; dbVar:nssv17976072; dbVar:nssv15161091; dbVar:nssv15161853; dbVar:nssv15161352; dbVar:nssv15161104; dbVar:nssv16255145; dbVar:nssv15161722 po_P_gain_coord : 8:60214-145068028; 8:63939-145078636; 8:208049-145070385; 8:208050-145070385; 8:208992-145055442; 8:214985-145068028; 8:226453-145068712; 8:241531-145049449; 8:241531-145054634; 8:241606-145054781; 8:12633491-145070385; 8:21291523-145070385; 8:32079036-145070385; 8:46031341-139285494; 8:68000198-145070385; 8:69470756-145070385; 8:77480051-145068712; 8:78497115-118028392; 8:78614078-145054634; 8:83800019-145070385; 8:85766000-145070385; 8:85828926-115505898; 8:85828926-145070385; 8:85829000-141679774; 8:86300585-137022587; 8:87931153-145068712; 8:92035255-140345536; 8:94682155-145068656; 8:95484276-145070325; 8:97382874-145070385; 8:97420023-144997286; 8:100867344-145070385; 8:103306337-145068712; 8:107409346-122417399; 8:113580403-145054634 po_P_gain_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00 po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv17970321; dbVar:nssv15151541; dbVar:nssv15151850; dbVar:nssv16208869; dbVar:nssv18330293; dbVar:nssv15133980; dbVar:nssv15161519; dbVar:nssv15120344; dbVar:nssv15162472 po_P_loss_coord : 8:106020660-119729778; 8:109238715-122503546; 8:110125077-118885372; 8:110502563-122180134; 8:111222329-132656133; 8:112528343-120083041; 8:113288455-126716087; 8:113418061-120975305; 8:113495858-128027758 po_P_loss_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00 |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_gain_source : dbVar B_gain_coord : chr8:113255770-113895771 B_gain_AFmax : 0.01 B_loss_source : dbVar B_loss_coord : chr8:112829826-113940753 B_loss_AFmax : 0.01 po_B_gain_allG_source : . po_B_gain_allG_coord : . po_B_gain_someG_source : . po_B_gain_someG_coord : chr8:113255770-113895771 dbVar po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : chr8:112829826-113940753 dbVar |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : . Repeat_type_left : . Gap_left : . GC_content_left : 0.275 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : . Repeat_type_right : . Gap_right : . GC_content_right : 0.275 |
CHM13,HG00621,HG00735,HG01071,HG01109,HG01123[...]Samples_ID : CHM13,HG00621,HG00735,HG01071,HG01109,HG01123,HG01175,HG01258,HG01361,HG01928,HG01952,HG01978,HG02080,HG02148,HG02818,HG03492,NA18906 |
>40317253>40317251ID : >40317253>40317251 |
TREF : T |
TTGTTTTCTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCT[...]ALT : TTGTTTTCTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCCCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCTACCACGCCCGGCTAATTTTTTGTATTTTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACAAGT |
60QUAL : 60 |
.FILTER : . |
AC=22; AF=0.247191; AN=89; AT=>40317253>[...]INFO : AC=22; AF=0.247191; AN=89; AT=>40317253>40317251,>40317253>40317252>40317251; LV=0; NS=45; e=113729340; s=304; rC=SINE/Alu |
GTFORMAT : GT |
0CHM13 : 0 |
0|0HG00438 : 0|0 |
1|1HG00621 : 1|1 |
0|0HG00673 : 0|0 |
0|0HG00733 : 0|0 |
0|1HG00735 : 0|1 |
0|0HG00741 : 0|0 |
1|0HG01071 : 1|0 |
0|0HG01106 : 0|0 |
1|0HG01109 : 1|0 |
0|1HG01123 : 0|1 |
1|1HG01175 : 1|1 |
0|0HG01243 : 0|0 |
0|1HG01258 : 0|1 |
0|0HG01358 : 0|0 |
0|1HG01361 : 0|1 |
0|0HG01891 : 0|0 |
1|1HG01928 : 1|1 |
1|1HG01952 : 1|1 |
1|1HG01978 : 1|1 |
0|0HG02055 : 0|0 |
0|1HG02080 : 0|1 |
0|0HG02109 : 0|0 |
0|0HG02145 : 0|0 |
1|1HG02148 : 1|1 |
0|0HG02257 : 0|0 |
0|0HG02486 : 0|0 |
0|0HG02559 : 0|0 |
0|0HG02572 : 0|0 |
0|0HG02622 : 0|0 |
0|0HG02630 : 0|0 |
0|0HG02717 : 0|0 |
0|0HG02723 : 0|0 |
0|1HG02818 : 0|1 |
0|0HG02886 : 0|0 |
0|0HG03098 : 0|0 |
0|0HG03453 : 0|0 |
0|0HG03486 : 0|0 |
1|0HG03492 : 1|0 |
0|0HG03516 : 0|0 |
0|0HG03540 : 0|0 |
0|0HG03579 : 0|0 |
0|1NA18906 : 0|1 |
0|0NA20129 : 0|0 |
0|0NA21309 : 0|0 |
|
NAACMG_class : NA AnnotSV_ranking_score : . AnnotSV_ranking_criteria : . |
INSSV_type : INS SV_length : 330 Gene_count : 0 |
fullAnnotation_mode : full |
.Gene_name : . LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . Closest_left : NPBWR1 Closest_right : LOC105375836 |
.Location : . CytoBand : q11.23 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_gain_phen : . po_P_gain_hpo : . po_P_gain_source : dbVar:nssv15169207; dbVar:nssv15128680; dbVar:nssv15161801; nssv15777239; nssv17976962; dbVar:nssv15161417; nssv15161657; dbVar:nssv15161846; dbVar:nssv15169210; dbVar:nssv15161105; dbVar:nssv15161269; dbVar:nssv15161748; dbVar:nssv15161087; dbVar:nssv15161426; dbVar:nssv15161357; dbVar:nssv15777249; dbVar:nssv15147495; dbVar:nssv15774700; dbVar:nssv15161758; dbVar:nssv15161797; dbVar:nssv15139743; dbVar:nssv15145255 po_P_gain_coord : 8:60214-145068028; 8:63939-145078636; 8:208049-145070385; 8:208050-145070385; 8:208992-145055442; 8:214985-145068028; 8:226453-145068712; 8:241531-145049449; 8:241531-145054634; 8:241606-145054781; 8:12633491-145070385; 8:21291523-145070385; 8:32079036-145070385; 8:36580104-59618998; 8:39698139-63136530; 8:46031335-69303787; 8:46031341-139285494; 8:52523572-64283396; 8:52698007-53562665 po_P_gain_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00 po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15167540; dbVar:nssv15148967 po_P_loss_coord : 8:48909925-57910043; 8:49471779-57825470 po_P_loss_percent : 0.00; 0.00 |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_gain_source : dbVar B_gain_coord : chr8:52395916-52974749; chr8:52783971-52968651; chr8:52910629-52967647; chr8:52930374-53029828; chr8:52938447-53031293; chr8:52953971-53006121; chr8:52957488-53009070 B_gain_AFmax : 0.01 B_loss_source : dbVar B_loss_coord : chr8:52951984-52962579 B_loss_AFmax : 0.01 po_B_gain_allG_source : . po_B_gain_allG_coord : . po_B_gain_someG_source : chr8:52783971-52968651 dbVar; chr8:52930374-53029828 dbVar; chr8:52953971-53006121 dbVar; po_B_gain_someG_coord : chr8:52395916-52974749 dbVar; chr8:52910629-52967647 dbVar; chr8:52938447-53031293 dbVar; chr8:52957488-53009070 dbVar po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : chr8:52951984-52962579 dbVar |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 8:52961222-52962558 Repeat_type_left : LTR12C Gap_left : . GC_content_left : 0.520 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 8:52961222-52962558 Repeat_type_right : LTR12C Gap_right : . GC_content_right : 0.520 |
CHM13,HG01928Samples_ID : CHM13,HG01928 |
>38524549>38524551ID : >38524549>38524551 |
TREF : T |
TAGCAATAAATCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[...]ALT : TAGCAATAAATCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGTCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAA |
60QUAL : 60 |
.FILTER : . |
AC=1; AF=0.011236; AN=89; AT=>38524549>[...]INFO : AC=1; AF=0.011236; AN=89; AT=>38524549>38524551,>38524549>38524550>38524551; LV=0; NS=45; e=52962171; s=330; rC=SINE/Alu |
GTFORMAT : GT |
0CHM13 : 0 |
0|0HG00438 : 0|0 |
0|0HG00621 : 0|0 |
0|0HG00673 : 0|0 |
0|0HG00733 : 0|0 |
0|0HG00735 : 0|0 |
0|0HG00741 : 0|0 |
0|0HG01071 : 0|0 |
0|0HG01106 : 0|0 |
0|0HG01109 : 0|0 |
0|0HG01123 : 0|0 |
0|0HG01175 : 0|0 |
0|0HG01243 : 0|0 |
0|0HG01258 : 0|0 |
0|0HG01358 : 0|0 |
0|0HG01361 : 0|0 |
0|0HG01891 : 0|0 |
1|0HG01928 : 1|0 |
0|0HG01952 : 0|0 |
0|0HG01978 : 0|0 |
0|0HG02055 : 0|0 |
0|0HG02080 : 0|0 |
0|0HG02109 : 0|0 |
0|0HG02145 : 0|0 |
0|0HG02148 : 0|0 |
0|0HG02257 : 0|0 |
0|0HG02486 : 0|0 |
0|0HG02559 : 0|0 |
0|0HG02572 : 0|0 |
0|0HG02622 : 0|0 |
0|0HG02630 : 0|0 |
0|0HG02717 : 0|0 |
0|0HG02723 : 0|0 |
0|0HG02818 : 0|0 |
0|0HG02886 : 0|0 |
0|0HG03098 : 0|0 |
0|0HG03453 : 0|0 |
0|0HG03486 : 0|0 |
0|0HG03492 : 0|0 |
0|0HG03516 : 0|0 |
0|0HG03540 : 0|0 |
0|0HG03579 : 0|0 |
0|0NA18906 : 0|0 |
0|0NA20129 : 0|0 |
0|0NA21309 : 0|0 |
|
NAACMG_class : NA AnnotSV_ranking_score : . AnnotSV_ranking_criteria : . |
INSSV_type : INS SV_length : 160 Gene_count : 0 |
fullAnnotation_mode : full |
.Gene_name : . LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . Closest_left : NPBWR1 Closest_right : LOC105375836 |
.Location : . CytoBand : q11.23 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_gain_phen : . po_P_gain_hpo : . po_P_gain_source : dbVar:nssv15169207; dbVar:nssv15128680; dbVar:nssv15161801; nssv15777239; nssv17976962; dbVar:nssv15161417; nssv15161657; dbVar:nssv15161846; dbVar:nssv15169210; dbVar:nssv15161105; dbVar:nssv15161269; dbVar:nssv15161748; dbVar:nssv15161087; dbVar:nssv15161426; dbVar:nssv15161357; dbVar:nssv15777249; dbVar:nssv15147495; dbVar:nssv15774700; dbVar:nssv15161758; dbVar:nssv15161797; dbVar:nssv15139743; dbVar:nssv15145255; dbVar:nssv15145256 po_P_gain_coord : 8:60214-145068028; 8:63939-145078636; 8:208049-145070385; 8:208050-145070385; 8:208992-145055442; 8:214985-145068028; 8:226453-145068712; 8:241531-145049449; 8:241531-145054634; 8:241606-145054781; 8:12633491-145070385; 8:21291523-145070385; 8:32079036-145070385; 8:36580104-59618998; 8:39698139-63136530; 8:46031335-69303787; 8:46031341-139285494; 8:52523572-64283396; 8:52698007-53562665; 8:52714196-52957953 po_P_gain_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00 po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15167540; dbVar:nssv15148967 po_P_loss_coord : 8:48909925-57910043; 8:49471779-57825470 po_P_loss_percent : 0.00; 0.00 |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_gain_source : dbVar B_gain_coord : chr8:52395916-52974749; chr8:52783971-52968651; chr8:52910629-52967647; chr8:52930374-53029828; chr8:52938447-53031293 B_gain_AFmax : 0.01 B_loss_source : dbVar B_loss_coord : chr8:52951984-52962579 B_loss_AFmax : 0.01 po_B_gain_allG_source : . po_B_gain_allG_coord : . po_B_gain_someG_source : chr8:52783971-52968651 dbVar; chr8:52930374-53029828 dbVar; po_B_gain_someG_coord : chr8:52395916-52974749 dbVar; chr8:52910629-52967647 dbVar; chr8:52938447-53031293 dbVar po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : chr8:52951984-52962579 dbVar |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 8:52951711-52953422 Repeat_type_left : LTR12C Gap_left : . GC_content_left : 0.460 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 8:52951711-52953422 Repeat_type_right : LTR12C Gap_right : . GC_content_right : 0.460 |
CHM13,HG01109,HG01891,HG02109,HG02145,HG02559[...]Samples_ID : CHM13,HG01109,HG01891,HG02109,HG02145,HG02559,HG02717,HG03098,HG03453,HG03516 |
>38524069>38524071ID : >38524069>38524071 |
TREF : T |
TATTTACAAACCTTGAGCTAGATACTGAGTGCCGATTGGTGTATT[...]ALT : TATTTACAAACCTTGAGCTAGATACTGAGTGCCGATTGGTGTATTTACAATCCCTGAGCTAGACATAAAGGTTCTCCACGTCCTCACCAGAGCAGCTAGATACAGAGTGTCGATTGGTGCACTCACAAACCTTGAGCTAAACACAGGGTGCTGATTTGTGT |
60QUAL : 60 |
.FILTER : . |
AC=11; AF=0.123596; AN=89; AT=>38524069>[...]INFO : AC=11; AF=0.123596; AN=89; AT=>38524069>38524071,>38524069>38524070>38524071; LV=0; NS=45; e=52952561; s=160; rC=LTR/ERV |
GTFORMAT : GT |
0CHM13 : 0 |
0|0HG00438 : 0|0 |
0|0HG00621 : 0|0 |
0|0HG00673 : 0|0 |
0|0HG00733 : 0|0 |
0|0HG00735 : 0|0 |
0|0HG00741 : 0|0 |
0|0HG01071 : 0|0 |
0|0HG01106 : 0|0 |
0|1HG01109 : 0|1 |
0|0HG01123 : 0|0 |
0|0HG01175 : 0|0 |
0|0HG01243 : 0|0 |
0|0HG01258 : 0|0 |
0|0HG01358 : 0|0 |
0|0HG01361 : 0|0 |
1|0HG01891 : 1|0 |
0|0HG01928 : 0|0 |
0|0HG01952 : 0|0 |
0|0HG01978 : 0|0 |
0|0HG02055 : 0|0 |
0|0HG02080 : 0|0 |
1|0HG02109 : 1|0 |
0|1HG02145 : 0|1 |
0|0HG02148 : 0|0 |
0|0HG02257 : 0|0 |
0|0HG02486 : 0|0 |
0|1HG02559 : 0|1 |
0|0HG02572 : 0|0 |
0|0HG02622 : 0|0 |
0|0HG02630 : 0|0 |
0|1HG02717 : 0|1 |
0|0HG02723 : 0|0 |
0|0HG02818 : 0|0 |
0|0HG02886 : 0|0 |
0|1HG03098 : 0|1 |
1|1HG03453 : 1|1 |
0|0HG03486 : 0|0 |
0|0HG03492 : 0|0 |
1|1HG03516 : 1|1 |
0|0HG03540 : 0|0 |
0|0HG03579 : 0|0 |
0|0NA18906 : 0|0 |
0|0NA20129 : 0|0 |
0|0NA21309 : 0|0 |
|
NAACMG_class : NA AnnotSV_ranking_score : . AnnotSV_ranking_criteria : . |
INSSV_type : INS SV_length : 951 Gene_count : 0 |
fullAnnotation_mode : full |
.Gene_name : . LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . Closest_left : LOC124901814 Closest_right : PPP1R3A |
.Location : . CytoBand : q31.1 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_gain_phen : . po_P_gain_hpo : . po_P_gain_source : dbVar:nssv15777247; dbVar:nssv15168013; dbVar:nssv15161666; nssv15161679; dbVar:nssv15168014; dbVar:nssv15147343; dbVar:nssv15153681; dbVar:nssv17970243; dbVar:nssv16208848; dbVar:nssv16206899; dbVar:nssv17977091; dbVar:nssv15134432 po_P_gain_coord : 7:10366-159327017; 7:10705-159329842; 7:43362-159327017; 7:44936-159333620; 7:97419853-158923762; 7:99095766-159327017; 7:107343843-129309648; 7:109611004-159327017; 7:109954943-114245148; 7:112880833-114101175; 7:113569778-115093349 po_P_gain_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00 po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15161318; dbVar:nssv17970240; dbVar:nssv15135220; dbVar:nssv16208150; dbVar:nssv15777267; dbVar:nssv15126350; dbVar:nssv15149094; dbVar:nssv15147680; dbVar:nssv15143585; dbVar:nssv15149093; dbVar:nssv15149092 po_P_loss_coord : 7:54186-159282390; 7:101033592-119516106; 7:102196925-121278641; 7:106976962-123577860; 7:107769870-118185495; 7:108156201-123536527; 7:108862565-115331733; 7:111973342-128257263; 7:112002591-116130221; 7:112354227-120715246; 7:113519230-115093286 po_P_loss_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . B_loss_source : gnomAD-SV_v3_DEL_chr7_2d27b477 B_loss_coord : chr7:113674831-118703773 B_loss_AFmax : 0.0140 po_B_gain_allG_source : . po_B_gain_allG_coord : . po_B_gain_someG_source : . po_B_gain_someG_coord : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : chr7:113674831-118703773 gnomAD-SV_v3_DEL_chr7_2d27b477 |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 7:113714286-113714684 Repeat_type_left : Tigger3b Gap_left : . GC_content_left : 0.360 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 7:113714286-113714684 Repeat_type_right : Tigger3b Gap_right : . GC_content_right : 0.360 |
CHM13,HG00733,HG00735,HG00741,HG01071,HG01109[...]Samples_ID : CHM13,HG00733,HG00735,HG00741,HG01071,HG01109,HG01123,HG01175,HG01243,HG01358,HG01361,HG01978,HG02148,HG02257,HG02559,HG03492 |
>35271359>35271362ID : >35271359>35271362 |
ATREF : AT |
AATTTTAGAGTATAAATGAAACTCCAGTTACCTTTCTCTAGCATT[...]ALT : AATTTTAGAGTATAAATGAAACTCCAGTTACCTTTCTCTAGCATTTTGCAGTGTCCCTATGTACTGTAATAGTCATTAAGGGCAGTAAATTTAGCTACTGCATTCTGAAATCAAAGAAATATCCTTATTGTTGGATTACTAGTTGTTGGCATCTCATATCAGCTCCAGTTTTATGTTAATAGGTGTGTGTGTGTATAGTCATGTGTTGCTGAAAAACAGTGATACTCTCTGAGAAATGCATTGGTGATTTTGCCATTGTGCAAACAGCATAAGGTGAACTTACACAAACCTAGGTGGCACAGCCTGCTACACACCTAGACTATATGGTATGGCCTGTTGCTCCTAGGCTACACATCTGTACAGCATGTTACTGTACTGAAACTGTAGGCAATTGTAACACAATGGTAAGTATTCGTGAATCTAAACATATTTAAACAGAAAAGATGCAGTAAAAAATACGGTATAAAAGATACCAAATGGTACACGTGTATAGGGCACTTACAATGATTGGAGCTTACAGGACTGGAAGCTGCTCTAGGTGAGTGGTGAGCGAATGTAAAGGCCTAGGACATTACTGCACACTACTGTAGAATTTGCAAACACTGTACCCTCACGTTACACTCAATTTATTAAAAAAATTATTTCTTCAGTAATAAATTACCCTTAGCTTACTGTAATATTTTACTTCATAAACTTTTAATTTAAATAGCTTGACTTGTAATAACACTTAACTTAAAACACAAACACCTTGTAGAGCTATACAAAACTATTTTATCTTCTTATTCTATAAGCTTTTTTCCAGTTTTAAAGTTTGTAATTTTTAAAAAATTCTTAATCTTTTTTGTTAAAACCTAAGGCACAAACACACACATGCTAGGCCTACGTAGGGTCAGGGTATCACTGTTTTCCACCTCCACATCTTGTCCAACTGGAAGGTCTTCAGGGTCAATAAC |
60QUAL : 60 |
.FILTER : . |
AC=20; AF=0.224719; AN=89; AT=>35271359>[...]INFO : AC=20; AF=0.224719; AN=89; AT=>35271359>35271361>35271362,>35271359>35271360>35271362; LV=0; NS=45; e=113714287; s=952; rC=DNA/misc |
GTFORMAT : GT |
1CHM13 : 1 |
0|0HG00438 : 0|0 |
0|0HG00621 : 0|0 |
0|0HG00673 : 0|0 |
1|1HG00733 : 1|1 |
1|1HG00735 : 1|1 |
1|1HG00741 : 1|1 |
1|0HG01071 : 1|0 |
0|0HG01106 : 0|0 |
1|1HG01109 : 1|1 |
1|0HG01123 : 1|0 |
0|1HG01175 : 0|1 |
1|0HG01243 : 1|0 |
0|0HG01258 : 0|0 |
1|0HG01358 : 1|0 |
0|1HG01361 : 0|1 |
0|0HG01891 : 0|0 |
0|0HG01928 : 0|0 |
0|0HG01952 : 0|0 |
1|0HG01978 : 1|0 |
0|0HG02055 : 0|0 |
0|0HG02080 : 0|0 |
0|0HG02109 : 0|0 |
0|0HG02145 : 0|0 |
1|0HG02148 : 1|0 |
0|1HG02257 : 0|1 |
0|0HG02486 : 0|0 |
0|1HG02559 : 0|1 |
0|0HG02572 : 0|0 |
0|0HG02622 : 0|0 |
0|0HG02630 : 0|0 |
0|0HG02717 : 0|0 |
0|0HG02723 : 0|0 |
0|0HG02818 : 0|0 |
0|0HG02886 : 0|0 |
0|0HG03098 : 0|0 |
0|0HG03453 : 0|0 |
0|0HG03486 : 0|0 |
0|1HG03492 : 0|1 |
0|0HG03516 : 0|0 |
0|0HG03540 : 0|0 |
0|0HG03579 : 0|0 |
0|0NA18906 : 0|0 |
0|0NA20129 : 0|0 |
0|0NA21309 : 0|0 |
|
NAACMG_class : NA AnnotSV_ranking_score : . AnnotSV_ranking_criteria : . |
INSSV_type : INS SV_length : 327 Gene_count : 0 |
fullAnnotation_mode : full |
.Gene_name : . LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . Closest_left : LINC02903 Closest_right : EIF3IP1 |
.Location : . CytoBand : q31.1 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_gain_phen : . po_P_gain_hpo : . po_P_gain_source : dbVar:nssv15777247; dbVar:nssv15168013; dbVar:nssv15161666; nssv15161679; dbVar:nssv15168014; dbVar:nssv15147343; dbVar:nssv15153681; dbVar:nssv17970243 po_P_gain_coord : 7:10366-159327017; 7:10705-159329842; 7:43362-159327017; 7:44936-159333620; 7:97419853-158923762; 7:99095766-159327017; 7:107343843-129309648 po_P_gain_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00 po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15161318; dbVar:nssv17970239; dbVar:nssv17970240; dbVar:nssv15132621; dbVar:nssv15135220; dbVar:nssv15122028; dbVar:nssv16208150; dbVar:nssv15777267; dbVar:nssv15126350; dbVar:nssv15125914; dbVar:nssv15149094 po_P_loss_coord : 7:54186-159282390; 7:99819849-111946253; 7:101033592-119516106; 7:101807150-112414850; 7:102196925-121278641; 7:106261940-111228036; 7:106976962-123577860; 7:107769870-118185495; 7:108156201-123536527; 7:108172813-111974915; 7:108862565-115331733 po_P_loss_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00 |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_gain_source : dbVar B_gain_coord : chr7:108891186-108912785 B_gain_AFmax : 0.01 B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_gain_allG_source : . po_B_gain_allG_coord : . po_B_gain_someG_source : . po_B_gain_someG_coord : chr7:108891186-108912785 dbVar po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : . Repeat_type_left : . Gap_left : . GC_content_left : 0.350 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : . Repeat_type_right : . Gap_right : . GC_content_right : 0.355 |
CHM13,HG00438,HG00673,HG01175,HG01243,HG01978[...]Samples_ID : CHM13,HG00438,HG00673,HG01175,HG01243,HG01978,HG02080,HG02148,HG03492 |
>36680178>36680176ID : >36680178>36680176 |
TREF : T |
TAGCAGTGACGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA[...]ALT : TAGCAGTGACGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGACGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAAATACAAAAATTAGCCGGGCATGGTGGCGCGCGCCTGTAGTCCCAGCTACACGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGTCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAAACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAT |
60QUAL : 60 |
.FILTER : . |
AC=10; AF=0.11236; AN=89; AT=>36680178>[...]INFO : AC=10; AF=0.11236; AN=89; AT=>36680178>36680176,>36680178<36680177>36680176; LV=0; NS=45; e=108911158; s=327; rC=SINE/Alu |
GTFORMAT : GT |
1CHM13 : 1 |
0|1HG00438 : 0|1 |
0|0HG00621 : 0|0 |
1|0HG00673 : 1|0 |
0|0HG00733 : 0|0 |
0|0HG00735 : 0|0 |
0|0HG00741 : 0|0 |
0|0HG01071 : 0|0 |
0|0HG01106 : 0|0 |
0|0HG01109 : 0|0 |
0|0HG01123 : 0|0 |
0|1HG01175 : 0|1 |
1|0HG01243 : 1|0 |
0|0HG01258 : 0|0 |
0|0HG01358 : 0|0 |
0|0HG01361 : 0|0 |
0|0HG01891 : 0|0 |
0|0HG01928 : 0|0 |
0|0HG01952 : 0|0 |
0|1HG01978 : 0|1 |
0|0HG02055 : 0|0 |
0|1HG02080 : 0|1 |
0|0HG02109 : 0|0 |
0|0HG02145 : 0|0 |
1|1HG02148 : 1|1 |
0|0HG02257 : 0|0 |
0|0HG02486 : 0|0 |
0|0HG02559 : 0|0 |
0|0HG02572 : 0|0 |
0|0HG02622 : 0|0 |
0|0HG02630 : 0|0 |
0|0HG02717 : 0|0 |
0|0HG02723 : 0|0 |
0|0HG02818 : 0|0 |
0|0HG02886 : 0|0 |
0|0HG03098 : 0|0 |
0|0HG03453 : 0|0 |
0|0HG03486 : 0|0 |
0|1HG03492 : 0|1 |
0|0HG03516 : 0|0 |
0|0HG03540 : 0|0 |
0|0HG03579 : 0|0 |
0|0NA18906 : 0|0 |
0|0NA20129 : 0|0 |
0|0NA21309 : 0|0 |
|
NAACMG_class : NA AnnotSV_ranking_score : . AnnotSV_ranking_criteria : . |
INSSV_type : INS SV_length : 160 Gene_count : 0 |
fullAnnotation_mode : full |
.Gene_name : . LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . Closest_left : LOC124901394 Closest_right : TPD52L1 |
.Location : . CytoBand : q22.31 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_gain_phen : . po_P_gain_hpo : . po_P_gain_source : dbVar:nssv15166690; dbVar:nssv15166692; dbVar:nssv15161859; nssv15161868; dbVar:nssv15168255; dbVar:nssv15148895; dbVar:nssv15135714; dbVar:nssv15125076; dbVar:nssv15142088 po_P_gain_coord : 6:60108-170745698; 6:108667-170671083; 6:156976-170610394; 6:165633-170610382; 6:74382808-142040500; 6:117607148-126699980; 6:121010905-145926272; 6:123959239-155794038 po_P_gain_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00 po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15148922; dbVar:nssv15146226; dbVar:nssv18841926; dbVar:nssv15147044; dbVar:nssv17976930; dbVar:nssv15132441; dbVar:nssv15150225; dbVar:nssv17970144; dbVar:nssv17956279 po_P_loss_coord : 6:106503720-125781219; 6:108944900-132067720; 6:113857249-130442177; 6:115601231-128514324; 6:115941809-133892653; 6:118975016-125713307; 6:122291496-131243323; 6:122518288-128480241; 6:124716330-129173650 po_P_loss_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_gain_allG_source : . po_B_gain_allG_coord : . po_B_gain_someG_source : . po_B_gain_someG_coord : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 6:125125672-125127113 Repeat_type_left : LTR12C Gap_left : . GC_content_left : 0.560 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 6:125125672-125127113 Repeat_type_right : LTR12C Gap_right : . GC_content_right : 0.560 |
CHM13,HG00741,HG01106,HG01891,HG02055,HG02109[...]Samples_ID : CHM13,HG00741,HG01106,HG01891,HG02055,HG02109,HG02257,HG02486,HG02559,HG02622,HG02630,HG02717,HG02818,HG03098,HG03453,HG03516,HG03579,NA18906,NA20129,NA21309 |
>32014608>32014605ID : >32014608>32014605 |
GREF : G |
GTCTAGCTAGGGGATTGTAAATACACCAATCGGCATGCTGTATCT[...]ALT : GTCTAGCTAGGGGATTGTAAATACACCAATCGGCATGCTGTATCTAGCTCAAGGTTTGTAAACACACCAATCAGCACCCTATGTCTAGCTCAGGGTTTGTGAATGCACCAATCGACACTCTGTATCTAGTTACTCTGGTGGGGACTTGGAGAACCTTTATG |
60QUAL : 60 |
.FILTER : . |
AC=23; AF=0.258427; AN=89; AT=>32014608>[...]INFO : AC=23; AF=0.258427; AN=89; AT=>32014608>32014605,>32014608>32014607>32014606>32014605; LV=0; NS=45; e=125126350; s=160; rC=LTR/ERV |
GTFORMAT : GT |
0CHM13 : 0 |
0|0HG00438 : 0|0 |
0|0HG00621 : 0|0 |
0|0HG00673 : 0|0 |
0|0HG00733 : 0|0 |
0|0HG00735 : 0|0 |
0|1HG00741 : 0|1 |
0|0HG01071 : 0|0 |
0|1HG01106 : 0|1 |
0|0HG01109 : 0|0 |
0|0HG01123 : 0|0 |
0|0HG01175 : 0|0 |
0|0HG01243 : 0|0 |
0|0HG01258 : 0|0 |
0|0HG01358 : 0|0 |
0|0HG01361 : 0|0 |
0|1HG01891 : 0|1 |
0|0HG01928 : 0|0 |
0|0HG01952 : 0|0 |
0|0HG01978 : 0|0 |
1|0HG02055 : 1|0 |
0|0HG02080 : 0|0 |
1|1HG02109 : 1|1 |
0|0HG02145 : 0|0 |
0|0HG02148 : 0|0 |
1|0HG02257 : 1|0 |
1|0HG02486 : 1|0 |
1|0HG02559 : 1|0 |
0|0HG02572 : 0|0 |
0|1HG02622 : 0|1 |
1|1HG02630 : 1|1 |
1|0HG02717 : 1|0 |
0|0HG02723 : 0|0 |
1|0HG02818 : 1|0 |
0|0HG02886 : 0|0 |
1|0HG03098 : 1|0 |
1|0HG03453 : 1|0 |
0|0HG03486 : 0|0 |
0|0HG03492 : 0|0 |
1|1HG03516 : 1|1 |
0|0HG03540 : 0|0 |
1|0HG03579 : 1|0 |
1|1NA18906 : 1|1 |
1|0NA20129 : 1|0 |
1|0NA21309 : 1|0 |
|
NAACMG_class : NA AnnotSV_ranking_score : . AnnotSV_ranking_criteria : . |
INSSV_type : INS SV_length : 180 Gene_count : 0 |
fullAnnotation_mode : full |
.Gene_name : . LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . Closest_left : MIR3144 Closest_right : LOC105377977 |
.Location : . CytoBand : q22.31 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_gain_phen : . po_P_gain_hpo : . po_P_gain_source : dbVar:nssv15166690; dbVar:nssv15166692; dbVar:nssv15161859; nssv15161868; dbVar:nssv15168255; dbVar:nssv15148895; dbVar:nssv17956430; dbVar:nssv15135714 po_P_gain_coord : 6:60108-170745698; 6:108667-170671083; 6:156976-170610394; 6:165633-170610382; 6:74382808-142040500; 6:117120641-123028527; 6:117607148-126699980 po_P_gain_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00 po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15147433; dbVar:nssv15148922; dbVar:nssv15146226; dbVar:nssv15125331; dbVar:nssv18830988; dbVar:nssv18841926; dbVar:nssv15147044; dbVar:nssv15127345; dbVar:nssv17976930; dbVar:nssv16296931; dbVar:nssv15132441 po_P_loss_coord : 6:96609995-122161548; 6:106503720-125781219; 6:108944900-132067720; 6:111748243-120673518; 6:112392653-123784039; 6:113857249-130442177; 6:115601231-128514324; 6:115717218-123631054; 6:115941809-133892653; 6:116413397-123326959; 6:118975016-125713307 po_P_loss_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00 |
.P_snvindel_nb : . P_snvindel_phen : . |
CMRI:0_pbsv.INS.DUP.1543; HPRC:pbsv.INS.DUP.7[...]B_gain_source : CMRI:0_pbsv.INS.DUP.1543; HPRC:pbsv.INS.DUP.7830; IMH; gnomAD-SV_v3_DUP_chr6_8755265f B_gain_coord : chr6:120504095-120504276; 6:120504096-120504274; chr6:120504096-120504274; 6:120504096-120504276 B_gain_AFmax : 0.6235 B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_gain_allG_source : . po_B_gain_allG_coord : . po_B_gain_someG_source : 6:120504096-120504274 CMRI:0_pbsv.INS.DUP.1543; 6:120504096-120504276 IMH po_B_gain_someG_coord : chr6:120504095-120504276 gnomAD-SV_v3_DUP_chr6_8755265f; chr6:120504096-120504274 HPRC:pbsv.INS.DUP.7830 po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 6:120503751-120504123; 6:120504124-120504545 Repeat_type_left : THE1C; L1M4c Gap_left : . GC_content_left : 0.340 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 6:120503751-120504123; 6:120504124-120504545 Repeat_type_right : THE1C; L1M4c Gap_right : . GC_content_right : 0.340 |
CHM13,HG00621,HG00673,HG00733,HG00735,HG01106[...]Samples_ID : CHM13,HG00621,HG00673,HG00733,HG00735,HG01106,HG01109,HG01123,HG01243,HG01258,HG01928,HG01952,HG01978,HG02080,HG02148 |
>31711457>31711454ID : >31711457>31711454 |
AREF : A |
AGTGAGAATGGACTAATACAAATAGCTTTTTCCATCCTTTCATTT[...]ALT : AGTGAGAATGGACTAATACAAATAGCTTTTTCCATCCTTTCATTTTTGACCTATTTTGCATCTTTGGATCTCTAATTAGTCTTTTGTAGAACAAATATAGTTTGATAATTTTTTTATTCCATTCTGTCAATCTTTGTCTTTTGATTGGATGGCTTAATCCATTCATGTTTAAATTAGCAGA |
60QUAL : 60 |
.FILTER : . |
AC=17; AF=0.191011; AN=89; AT=>31711457>[...]INFO : AC=17; AF=0.191011; AN=89; AT=>31711457>31711454,>31711457<31711456<31711455>31711454; LV=0; NS=45; e=120504104; s=180; rC=LINE/L1 |
GTFORMAT : GT |
0CHM13 : 0 |
0|0HG00438 : 0|0 |
1|0HG00621 : 1|0 |
1|0HG00673 : 1|0 |
0|1HG00733 : 0|1 |
1|0HG00735 : 1|0 |
0|0HG00741 : 0|0 |
0|0HG01071 : 0|0 |
1|0HG01106 : 1|0 |
1|1HG01109 : 1|1 |
0|1HG01123 : 0|1 |
0|0HG01175 : 0|0 |
1|0HG01243 : 1|0 |
1|0HG01258 : 1|0 |
0|0HG01358 : 0|0 |
0|0HG01361 : 0|0 |
0|0HG01891 : 0|0 |
0|1HG01928 : 0|1 |
1|1HG01952 : 1|1 |
0|1HG01978 : 0|1 |
0|0HG02055 : 0|0 |
1|1HG02080 : 1|1 |
0|0HG02109 : 0|0 |
0|0HG02145 : 0|0 |
1|0HG02148 : 1|0 |
0|0HG02257 : 0|0 |
0|0HG02486 : 0|0 |
0|0HG02559 : 0|0 |
0|0HG02572 : 0|0 |
0|0HG02622 : 0|0 |
0|0HG02630 : 0|0 |
0|0HG02717 : 0|0 |
0|0HG02723 : 0|0 |
0|0HG02818 : 0|0 |
0|0HG02886 : 0|0 |
0|0HG03098 : 0|0 |
0|0HG03453 : 0|0 |
0|0HG03486 : 0|0 |
0|0HG03492 : 0|0 |
0|0HG03516 : 0|0 |
0|0HG03540 : 0|0 |
0|0HG03579 : 0|0 |
0|0NA18906 : 0|0 |
0|0NA20129 : 0|0 |
0|0NA21309 : 0|0 |
|
NAACMG_class : NA AnnotSV_ranking_score : . AnnotSV_ranking_criteria : . |
INSSV_type : INS SV_length : 332 Gene_count : 0 |
fullAnnotation_mode : full |
.Gene_name : . LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . Closest_left : LOC107986639 Closest_right : LOC105377960 |
.Location : . CytoBand : q22.1 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_gain_phen : . po_P_gain_hpo : . po_P_gain_source : dbVar:nssv15166690; dbVar:nssv15166692; dbVar:nssv15161859; nssv15161868; dbVar:nssv15168255; dbVar:nssv15148895; dbVar:nssv16216867 po_P_gain_coord : 6:60108-170745698; 6:108667-170671083; 6:156976-170610394; 6:165633-170610382; 6:74382808-142040500; 6:100839183-116692082 po_P_gain_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00 po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv17970123; dbVar:nssv17970126; dbVar:nssv15152934; dbVar:nssv15147433; dbVar:nssv15148239; dbVar:nssv15148922; dbVar:nssv15147394; dbVar:nssv15146226; dbVar:nssv15772968; dbVar:nssv15125331; dbVar:nssv8639606; dbVar:nssv18830988; dbVar:nssv15152938; dbVar:nssv18841926 po_P_loss_coord : 6:85278711-120227541; 6:91345174-118008488; 6:94840234-116363766; 6:96609995-122161548; 6:100054890-120488154; 6:106503720-125781219; 6:107370142-115827482; 6:108944900-132067720; 6:110659873-119287231; 6:111748243-120673518; 6:112190550-117716433; 6:112392653-123784039; 6:112939841-117521663; 6:113857249-130442177 po_P_loss_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00 |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_gain_source : dbVar B_gain_coord : chr6:114901506-115170373 B_gain_AFmax : 0.01 B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_gain_allG_source : . po_B_gain_allG_coord : . po_B_gain_someG_source : . po_B_gain_someG_coord : chr6:114901506-115170373 dbVar po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 6:115042817-115043018 Repeat_type_left : LTR50 Gap_left : . GC_content_left : 0.420 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 6:115042817-115043018 Repeat_type_right : LTR50 Gap_right : . GC_content_right : 0.415 |
CHM13Samples_ID : CHM13 |
>31827928>31827926ID : >31827928>31827926 |
GREF : G |
GTTCTACTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGA[...]ALT : GTTCTACTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGTCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTAAG |
60QUAL : 60 |
.FILTER : . |
AC=1; AF=0.011236; AN=89; AT=>31827928>[...]INFO : AC=1; AF=0.011236; AN=89; AT=>31827928>31827926,>31827928>31827927>31827926; LV=0; NS=45; e=115042867; s=332; rC=SINE/Alu |
GTFORMAT : GT |
1CHM13 : 1 |
0|0HG00438 : 0|0 |
0|0HG00621 : 0|0 |
0|0HG00673 : 0|0 |
0|0HG00733 : 0|0 |
0|0HG00735 : 0|0 |
0|0HG00741 : 0|0 |
0|0HG01071 : 0|0 |
0|0HG01106 : 0|0 |
0|0HG01109 : 0|0 |
0|0HG01123 : 0|0 |
0|0HG01175 : 0|0 |
0|0HG01243 : 0|0 |
0|0HG01258 : 0|0 |
0|0HG01358 : 0|0 |
0|0HG01361 : 0|0 |
0|0HG01891 : 0|0 |
0|0HG01928 : 0|0 |
0|0HG01952 : 0|0 |
0|0HG01978 : 0|0 |
0|0HG02055 : 0|0 |
0|0HG02080 : 0|0 |
0|0HG02109 : 0|0 |
0|0HG02145 : 0|0 |
0|0HG02148 : 0|0 |
0|0HG02257 : 0|0 |
0|0HG02486 : 0|0 |
0|0HG02559 : 0|0 |
0|0HG02572 : 0|0 |
0|0HG02622 : 0|0 |
0|0HG02630 : 0|0 |
0|0HG02717 : 0|0 |
0|0HG02723 : 0|0 |
0|0HG02818 : 0|0 |
0|0HG02886 : 0|0 |
0|0HG03098 : 0|0 |
0|0HG03453 : 0|0 |
0|0HG03486 : 0|0 |
0|0HG03492 : 0|0 |
0|0HG03516 : 0|0 |
0|0HG03540 : 0|0 |
0|0HG03579 : 0|0 |
0|0NA18906 : 0|0 |
0|0NA20129 : 0|0 |
0|0NA21309 : 0|0 |
|
NAACMG_class : NA AnnotSV_ranking_score : . AnnotSV_ranking_criteria : . |
INSSV_type : INS SV_length : 216 Gene_count : 0 |
fullAnnotation_mode : full |
.Gene_name : . LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . Closest_left : LOC124901292 Closest_right : LINC01012 |
.Location : . CytoBand : p22.1 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_gain_phen : . po_P_gain_hpo : . po_P_gain_source : dbVar:nssv15166690; dbVar:nssv15166692; dbVar:nssv15161578; dbVar:nssv15161859; nssv15161868; dbVar:nssv15168255; dbVar:nssv15148873 po_P_gain_coord : 6:60108-170745698; 6:108667-170671083; 6:156975-46789291; 6:156976-170610394; 6:165633-170610382; 6:3224311-30657190 po_P_gain_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00 po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : . po_P_loss_coord : . po_P_loss_percent : . |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_gain_source : dbVar B_gain_coord : chr6:27535526-27745500; chr6:27650582-27702362; chr6:27661220-27678121; chr6:27661236-27692521; chr6:27666701-27680455 B_gain_AFmax : 0.01 B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_gain_allG_source : . po_B_gain_allG_coord : . po_B_gain_someG_source : chr6:27650582-27702362 dbVar; chr6:27661236-27692521 dbVar; po_B_gain_someG_coord : chr6:27535526-27745500 dbVar; chr6:27661220-27678121 dbVar; chr6:27666701-27680455 dbVar po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 6:27668842-27669146 Repeat_type_left : AluSp Gap_left : . GC_content_left : 0.535 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 6:27668842-27669146 Repeat_type_right : AluSp Gap_right : . GC_content_right : 0.540 |
CHM13,HG02559Samples_ID : CHM13,HG02559 |
>29246117>29246119ID : >29246117>29246119 |
TREF : T |
TAAAAATACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAG[...]ALT : TAAAAATACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA |
60QUAL : 60 |
.FILTER : . |
AC=1; AF=0.011236; AN=89; AT=>29246117>[...]INFO : AC=1; AF=0.011236; AN=89; AT=>29246117>29246119,>29246117>29246118>29246119; LV=0; NS=45; e=27668961; s=216; rC=SINE/Alu |
GTFORMAT : GT |
0CHM13 : 0 |
0|0HG00438 : 0|0 |
0|0HG00621 : 0|0 |
0|0HG00673 : 0|0 |
0|0HG00733 : 0|0 |
0|0HG00735 : 0|0 |
0|0HG00741 : 0|0 |
0|0HG01071 : 0|0 |
0|0HG01106 : 0|0 |
0|0HG01109 : 0|0 |
0|0HG01123 : 0|0 |
0|0HG01175 : 0|0 |
0|0HG01243 : 0|0 |
0|0HG01258 : 0|0 |
0|0HG01358 : 0|0 |
0|0HG01361 : 0|0 |
0|0HG01891 : 0|0 |
0|0HG01928 : 0|0 |
0|0HG01952 : 0|0 |
0|0HG01978 : 0|0 |
0|0HG02055 : 0|0 |
0|0HG02080 : 0|0 |
0|0HG02109 : 0|0 |
0|0HG02145 : 0|0 |
0|0HG02148 : 0|0 |
0|0HG02257 : 0|0 |
0|0HG02486 : 0|0 |
0|1HG02559 : 0|1 |
0|0HG02572 : 0|0 |
0|0HG02622 : 0|0 |
0|0HG02630 : 0|0 |
0|0HG02717 : 0|0 |
0|0HG02723 : 0|0 |
0|0HG02818 : 0|0 |
0|0HG02886 : 0|0 |
0|0HG03098 : 0|0 |
0|0HG03453 : 0|0 |
0|0HG03486 : 0|0 |
0|0HG03492 : 0|0 |
0|0HG03516 : 0|0 |
0|0HG03540 : 0|0 |
0|0HG03579 : 0|0 |
0|0NA18906 : 0|0 |
0|0NA20129 : 0|0 |
0|0NA21309 : 0|0 |
|
NAACMG_class : NA AnnotSV_ranking_score : . AnnotSV_ranking_criteria : . |
INSSV_type : INS SV_length : 331 Gene_count : 0 |
fullAnnotation_mode : full |
.Gene_name : . LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . Closest_left : LOC124901270 Closest_right : RNF144B |
.Location : . CytoBand : p22.3 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
NHLRC1 (morbid/RE=EA_enhancer); RE_gene : NHLRC1 (morbid/RE=EA_enhancer); |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_gain_phen : . po_P_gain_hpo : . po_P_gain_source : dbVar:nssv15166690; dbVar:nssv15132417; dbVar:nssv15166692; dbVar:nssv15154409; dbVar:nssv15772668; dbVar:nssv15161578; dbVar:nssv15161859; nssv15161868; dbVar:nssv15168255; dbVar:nssv15124407; nssv15153178; dbVar:nssv18786303; dbVar:nssv15148873 po_P_gain_coord : 6:60108-170745698; 6:106432-18360595; 6:108667-170671083; 6:156975-21955733; 6:156975-23221393; 6:156975-46789291; 6:156976-170610394; 6:165633-170610382; 6:168776-24023006; 6:820001-21699769; 6:3224311-30657190 po_P_gain_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00 po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv18329282; dbVar:nssv15151127; dbVar:nssv15773065 po_P_loss_coord : 6:12005398-22849418; 6:13693621-24225287; 6:13909895-21999975 po_P_loss_percent : 0.00; 0.00; 0.00 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . B_loss_source : DDD:19926; dbVar B_loss_coord : chr6:18325449-18329276; chr6:18326788-18331521; 6:18326819-18331430; chr6:18327492-18328186 B_loss_AFmax : 0.01 po_B_gain_allG_source : . po_B_gain_allG_coord : . po_B_gain_someG_source : . po_B_gain_someG_coord : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : chr6:18326788-18331521 dbVar; chr6:18327492-18328186 dbVar po_B_loss_someG_coord : chr6:18325449-18329276 dbVar; 6:18326819-18331430 DDD:19926 |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : . Repeat_type_left : . Gap_left : . GC_content_left : 0.440 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : . Repeat_type_right : . Gap_right : . GC_content_right : 0.440 |
CHM13Samples_ID : CHM13 |
>28634204>28634206ID : >28634204>28634206 |
TREF : T |
TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGC[...]ALT : TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCATTCCTAGCTTTTT |
60QUAL : 60 |
.FILTER : . |
AC=1; AF=0.011236; AN=89; AT=>28634204>[...]INFO : AC=1; AF=0.011236; AN=89; AT=>28634204>28634206,>28634204>28634205>28634206; LV=0; NS=45; e=18328176; s=331; rC=SINE/Alu |
GTFORMAT : GT |
1CHM13 : 1 |
0|0HG00438 : 0|0 |
0|0HG00621 : 0|0 |
0|0HG00673 : 0|0 |
0|0HG00733 : 0|0 |
0|0HG00735 : 0|0 |
0|0HG00741 : 0|0 |
0|0HG01071 : 0|0 |
0|0HG01106 : 0|0 |
0|0HG01109 : 0|0 |
0|0HG01123 : 0|0 |
0|0HG01175 : 0|0 |
0|0HG01243 : 0|0 |
0|0HG01258 : 0|0 |
0|0HG01358 : 0|0 |
0|0HG01361 : 0|0 |
0|0HG01891 : 0|0 |
0|0HG01928 : 0|0 |
0|0HG01952 : 0|0 |
0|0HG01978 : 0|0 |
0|0HG02055 : 0|0 |
0|0HG02080 : 0|0 |
0|0HG02109 : 0|0 |
0|0HG02145 : 0|0 |
0|0HG02148 : 0|0 |
0|0HG02257 : 0|0 |
0|0HG02486 : 0|0 |
0|0HG02559 : 0|0 |
0|0HG02572 : 0|0 |
0|0HG02622 : 0|0 |
0|0HG02630 : 0|0 |
0|0HG02717 : 0|0 |
0|0HG02723 : 0|0 |
0|0HG02818 : 0|0 |
0|0HG02886 : 0|0 |
0|0HG03098 : 0|0 |
0|0HG03453 : 0|0 |
0|0HG03486 : 0|0 |
0|0HG03492 : 0|0 |
0|0HG03516 : 0|0 |
0|0HG03540 : 0|0 |
0|0HG03579 : 0|0 |
0|0NA18906 : 0|0 |
0|0NA20129 : 0|0 |
0|0NA21309 : 0|0 |
|
NAACMG_class : NA AnnotSV_ranking_score : . AnnotSV_ranking_criteria : . |
INSSV_type : INS SV_length : 129 Gene_count : 0 |
fullAnnotation_mode : full |
.Gene_name : . LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . Closest_left : FBN2 Closest_right : LOC105379167 |
.Location : . CytoBand : q23.3 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_gain_phen : . po_P_gain_hpo : . po_P_gain_source : dbVar:nssv15164761; dbVar:nssv15164765; dbVar:nssv15151111; nssv15151221; dbVar:nssv15776426; dbVar:nssv15142773 po_P_gain_coord : 5:13649-181478028; 5:25330-181266343; 5:113463-181292788; 5:90653302-129981762; 5:107380657-181260337 po_P_gain_percent : 0.00; 0.00; 0.00; 0.00; 0.00 po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15151179; dbVar:nssv15143209; nssv17976344; dbVar:nssv15139660; dbVar:nssv15146464; dbVar:nssv15136701; dbVar:nssv18329255; dbVar:nssv15119917; dbVar:nssv15126271; dbVar:nssv17977106; dbVar:nssv15132436; dbVar:nssv15223194; dbVar:nssv15126199; dbVar:nssv18830828 po_P_loss_coord : 5:17628633-177148719; 5:87104184-154620440; 5:91411709-131319563; 5:106619589-156124387; 5:110687443-130103838; 5:113221695-128770606; 5:116677123-132686163; 5:123072609-130670586; 5:125661343-129564831; 5:126438407-132873967; 5:127042028-136935300; 5:127501001-135950694; 5:128464726-134666996 po_P_loss_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . B_loss_source : dbVar B_loss_coord : chr5:128588393-128602672; chr5:128590241-128597475 B_loss_AFmax : 0.01 po_B_gain_allG_source : . po_B_gain_allG_coord : . po_B_gain_someG_source : . po_B_gain_someG_coord : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : chr5:128590241-128597475 dbVar po_B_loss_someG_coord : chr5:128588393-128602672 dbVar |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 5:128593973-128594278; 5:128594279-128594407 Repeat_type_left : AluSp; AluSq2 Gap_left : . GC_content_left : 0.510 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 5:128593973-128594278; 5:128594279-128594407 Repeat_type_right : AluSp; AluSq2 Gap_right : . GC_content_right : 0.515 |
CHM13,HG00733,HG01071,HG01258,HG01891,HG02055[...]Samples_ID : CHM13,HG00733,HG01071,HG01258,HG01891,HG02055,HG02109,HG02145,HG02257,HG02559,HG02630,HG02717,HG02818,HG02886,HG03453,HG03486,HG03516,NA18906,NA20129 |
>26386322>26386324ID : >26386322>26386324 |
TREF : T |
TGACCTCAGGTGATCCCCCTGCCTTGGCCTCCCAAAGTGCTGGGA[...]ALT : TGACCTCAGGTGATCCCCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCAGCCTAATTTTTTGGTAGAGATGGGGTTTCACCATGTTGACCAGGCTGGTCTCGAACTCCT |
60QUAL : 60 |
.FILTER : . |
AC=19; AF=0.213483; AN=89; AT=>26386322>[...]INFO : AC=19; AF=0.213483; AN=89; AT=>26386322>26386324,>26386322>26386323>26386324; LV=1; NS=45; PS=>25662516>25796736; e=128594206; s=129; rC=SINE/Alu |
GTFORMAT : GT |
0CHM13 : 0 |
0|0HG00438 : 0|0 |
0|0HG00621 : 0|0 |
0|0HG00673 : 0|0 |
1|0HG00733 : 1|0 |
0|0HG00735 : 0|0 |
0|0HG00741 : 0|0 |
1|0HG01071 : 1|0 |
0|0HG01106 : 0|0 |
0|0HG01109 : 0|0 |
0|0HG01123 : 0|0 |
0|0HG01175 : 0|0 |
0|0HG01243 : 0|0 |
1|0HG01258 : 1|0 |
0|0HG01358 : 0|0 |
0|0HG01361 : 0|0 |
0|1HG01891 : 0|1 |
0|0HG01928 : 0|0 |
0|0HG01952 : 0|0 |
0|0HG01978 : 0|0 |
0|1HG02055 : 0|1 |
0|0HG02080 : 0|0 |
1|0HG02109 : 1|0 |
0|1HG02145 : 0|1 |
0|0HG02148 : 0|0 |
0|1HG02257 : 0|1 |
0|0HG02486 : 0|0 |
0|1HG02559 : 0|1 |
0|0HG02572 : 0|0 |
0|0HG02622 : 0|0 |
0|1HG02630 : 0|1 |
0|1HG02717 : 0|1 |
0|0HG02723 : 0|0 |
1|0HG02818 : 1|0 |
1|0HG02886 : 1|0 |
0|0HG03098 : 0|0 |
1|0HG03453 : 1|0 |
1|0HG03486 : 1|0 |
0|0HG03492 : 0|0 |
1|1HG03516 : 1|1 |
0|0HG03540 : 0|0 |
0|0HG03579 : 0|0 |
0|1NA18906 : 0|1 |
1|0NA20129 : 1|0 |
0|0NA21309 : 0|0 |
|
NAACMG_class : NA AnnotSV_ranking_score : . AnnotSV_ranking_criteria : . |
INSSV_type : INS SV_length : 147 Gene_count : 0 |
fullAnnotation_mode : full |
.Gene_name : . LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . Closest_left : GC Closest_right : NPFFR2 |
.Location : . CytoBand : q13.3 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_gain_phen : . po_P_gain_hpo : . po_P_gain_source : dbVar:nssv15165478; dbVar:nssv15148693; dbVar:nssv15165480; dbVar:nssv15164282; dbVar:nssv15149870; nssv15151360; dbVar:nssv15145710; dbVar:nssv17956560; dbVar:nssv15153593; dbVar:nssv15774461; dbVar:nssv15146779; dbVar:nssv15133498 po_P_gain_coord : 4:11526-190107724; 4:12441-189983286; 4:49557-189994495; 4:49557-190042611; 4:68455-190036318; 4:51831623-97505618; 4:52000779-142661354; 4:63839784-72603999; 4:67377067-82070278; 4:68686089-95294456; 4:71128875-78099088 po_P_gain_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00 po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv17173265; dbVar:nssv15125766; dbVar:nssv17969950; dbVar:nssv15141158; dbVar:nssv15132956; dbVar:nssv15137205; dbVar:nssv18830797; dbVar:nssv16207960; dbVar:nssv16254734; dbVar:nssv15774677; dbVar:nssv16207962 po_P_loss_coord : 4:51891815-76009719; 4:58301080-100989502; 4:61001838-73845800; 4:65151858-75851794; 4:65454563-72313693; 4:67799666-74240920; 4:67833056-82716065; 4:68084646-78817444; 4:70546693-86999632; 4:70696064-77383187; 4:71815163-85505079 po_P_loss_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . B_loss_source : dbVar B_loss_coord : chr4:71817285-71997049 B_loss_AFmax : 0.01 po_B_gain_allG_source : . po_B_gain_allG_coord : . po_B_gain_someG_source : . po_B_gain_someG_coord : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : chr4:71817285-71997049 dbVar |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 4:71863361-71863496; 4:71863491-71863535; 4:71863536-71864044 Repeat_type_left : HERVK9-int; HERVK9-int; MER9a3 Gap_left : . GC_content_left : 0.420 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 4:71863361-71863496; 4:71863491-71863535; 4:71863536-71864044 Repeat_type_right : HERVK9-int; HERVK9-int; MER9a3 Gap_right : . GC_content_right : 0.420 |
CHM13,HG00438,HG00621,HG00673,HG00733,HG00735[...]Samples_ID : CHM13,HG00438,HG00621,HG00673,HG00733,HG00735,HG00741,HG01071,HG01106,HG01109,HG01123,HG01175,HG01258,HG01358,HG01361,HG01928,HG01952,HG01978,HG02055,HG02080,HG02109,HG02148,HG02257,HG02486,HG02559,HG02630,HG02717,HG02723,HG02818,HG02886,HG03098,HG03492,HG03516,HG03540,NA18906,NA20129 |
>19881716>19881718ID : >19881716>19881718 |
TREF : T |
TTTTACCCATTAAAATGGATAAAAACGCTTGGAGCTCTGTGATTT[...]ALT : TTTTACCCATTAAAATGGATAAAAACGCTTGGAGCTCTGTGATTTCAATGGTGATTGTGCTTTGAATCTCTGTTGTTTGTCTTTGTATAGTCTGCAGATGTGGATCCTGACTCCTGTGAGAAGTAGCTCACTGTGACAAAGCTGCCTT |
60QUAL : 60 |
.FILTER : . |
AC=54; AF=0.606742; AN=89; AT=>19881716>[...]INFO : AC=54; AF=0.606742; AN=89; AT=>19881716>19881718,>19881716<19881717>19881718; LV=0; NS=45; e=71863499; s=147; rC=LTR/ERV |
GTFORMAT : GT |
1CHM13 : 1 |
1|0HG00438 : 1|0 |
0|1HG00621 : 0|1 |
1|0HG00673 : 1|0 |
1|0HG00733 : 1|0 |
1|1HG00735 : 1|1 |
0|1HG00741 : 0|1 |
1|1HG01071 : 1|1 |
1|1HG01106 : 1|1 |
0|1HG01109 : 0|1 |
1|1HG01123 : 1|1 |
1|1HG01175 : 1|1 |
0|0HG01243 : 0|0 |
1|1HG01258 : 1|1 |
1|0HG01358 : 1|0 |
1|1HG01361 : 1|1 |
0|0HG01891 : 0|0 |
0|1HG01928 : 0|1 |
1|1HG01952 : 1|1 |
1|1HG01978 : 1|1 |
1|1HG02055 : 1|1 |
1|1HG02080 : 1|1 |
1|1HG02109 : 1|1 |
0|0HG02145 : 0|0 |
1|0HG02148 : 1|0 |
1|1HG02257 : 1|1 |
0|1HG02486 : 0|1 |
0|1HG02559 : 0|1 |
0|0HG02572 : 0|0 |
0|0HG02622 : 0|0 |
0|1HG02630 : 0|1 |
0|1HG02717 : 0|1 |
1|1HG02723 : 1|1 |
1|0HG02818 : 1|0 |
1|1HG02886 : 1|1 |
0|1HG03098 : 0|1 |
0|0HG03453 : 0|0 |
0|0HG03486 : 0|0 |
1|1HG03492 : 1|1 |
1|0HG03516 : 1|0 |
1|1HG03540 : 1|1 |
0|0HG03579 : 0|0 |
1|0NA18906 : 1|0 |
1|1NA20129 : 1|1 |
0|0NA21309 : 0|0 |
|
NAACMG_class : NA AnnotSV_ranking_score : . AnnotSV_ranking_criteria : . |
INSSV_type : INS SV_length : 222 Gene_count : 0 |
fullAnnotation_mode : full |
.Gene_name : . LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . Closest_left : TMPRSS11B Closest_right : YTHDC1 |
.Location : . CytoBand : q13.2 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_gain_phen : . po_P_gain_hpo : . po_P_gain_source : dbVar:nssv15165478; dbVar:nssv15148693; dbVar:nssv15165480; dbVar:nssv15164282; dbVar:nssv15149870; nssv15151360; dbVar:nssv15145710; dbVar:nssv17956560; dbVar:nssv15153593; dbVar:nssv15774461 po_P_gain_coord : 4:11526-190107724; 4:12441-189983286; 4:49557-189994495; 4:49557-190042611; 4:68455-190036318; 4:51831623-97505618; 4:52000779-142661354; 4:63839784-72603999; 4:67377067-82070278 po_P_gain_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00 po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv17173265; dbVar:nssv15165214; dbVar:nssv15125766; dbVar:nssv17969950; dbVar:nssv15141158; dbVar:nssv15132956; dbVar:nssv15132546; dbVar:nssv15137205; dbVar:nssv18830797; dbVar:nssv16207960 po_P_loss_coord : 4:51891815-76009719; 4:57466129-70721898; 4:58301080-100989502; 4:61001838-73845800; 4:65151858-75851794; 4:65454563-72313693; 4:66842409-70831557; 4:67799666-74240920; 4:67833056-82716065; 4:68084646-78817444 po_P_loss_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_gain_allG_source : . po_B_gain_allG_coord : . po_B_gain_someG_source : . po_B_gain_someG_coord : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 4:68257996-68258257; 4:68258258-68258467 Repeat_type_left : L1PB4; LTR16 Gap_left : . GC_content_left : 0.385 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 4:68257996-68258257; 4:68258258-68258467 Repeat_type_right : L1PB4; LTR16 Gap_right : . GC_content_right : 0.385 |
CHM13,HG01109,HG02572,HG02622,HG02886,HG03098[...]Samples_ID : CHM13,HG01109,HG02572,HG02622,HG02886,HG03098,HG03453,HG03486,NA20129 |
>19769160>19769162ID : >19769160>19769162 |
TREF : T |
TTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGC[...]ALT : TTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGCTCACGCCATTCTCCTGCCTCAGCACCCCCAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTCAGCC |
60QUAL : 60 |
.FILTER : . |
AC=8; AF=0.0898876; AN=89; AT=>19769160>[...]INFO : AC=8; AF=0.0898876; AN=89; AT=>19769160>19769162,>19769160<19769161>19769162; LV=0; NS=45; e=68258266; s=222; rC=SINE/Alu |
GTFORMAT : GT |
0CHM13 : 0 |
0|0HG00438 : 0|0 |
0|0HG00621 : 0|0 |
0|0HG00673 : 0|0 |
0|0HG00733 : 0|0 |
0|0HG00735 : 0|0 |
0|0HG00741 : 0|0 |
0|0HG01071 : 0|0 |
0|0HG01106 : 0|0 |
0|1HG01109 : 0|1 |
0|0HG01123 : 0|0 |
0|0HG01175 : 0|0 |
0|0HG01243 : 0|0 |
0|0HG01258 : 0|0 |
0|0HG01358 : 0|0 |
0|0HG01361 : 0|0 |
0|0HG01891 : 0|0 |
0|0HG01928 : 0|0 |
0|0HG01952 : 0|0 |
0|0HG01978 : 0|0 |
0|0HG02055 : 0|0 |
0|0HG02080 : 0|0 |
0|0HG02109 : 0|0 |
0|0HG02145 : 0|0 |
0|0HG02148 : 0|0 |
0|0HG02257 : 0|0 |
0|0HG02486 : 0|0 |
0|0HG02559 : 0|0 |
0|1HG02572 : 0|1 |
1|0HG02622 : 1|0 |
0|0HG02630 : 0|0 |
0|0HG02717 : 0|0 |
0|0HG02723 : 0|0 |
0|0HG02818 : 0|0 |
1|0HG02886 : 1|0 |
0|1HG03098 : 0|1 |
1|0HG03453 : 1|0 |
0|1HG03486 : 0|1 |
0|0HG03492 : 0|0 |
0|0HG03516 : 0|0 |
0|0HG03540 : 0|0 |
0|0HG03579 : 0|0 |
0|0NA18906 : 0|0 |
1|0NA20129 : 1|0 |
0|0NA21309 : 0|0 |
|
NAACMG_class : NA AnnotSV_ranking_score : . AnnotSV_ranking_criteria : . |
INSSV_type : INS SV_length : 327 Gene_count : 0 |
fullAnnotation_mode : full |
.Gene_name : . LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . Closest_left : MIR1269A Closest_right : LOC105377262 |
.Location : . CytoBand : q13.2 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_gain_phen : . po_P_gain_hpo : . po_P_gain_source : dbVar:nssv15165478; dbVar:nssv15148693; dbVar:nssv15165480; dbVar:nssv15164282; dbVar:nssv15149870; nssv15151360; dbVar:nssv15120560; dbVar:nssv15145710; dbVar:nssv17956560; dbVar:nssv15153593 po_P_gain_coord : 4:11526-190107724; 4:12441-189983286; 4:49557-189994495; 4:49557-190042611; 4:68455-190036318; 4:51831623-66991489; 4:51831623-97505618; 4:52000779-142661354; 4:63839784-72603999 po_P_gain_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00 po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv17173265; dbVar:nssv15165214; dbVar:nssv15125766; dbVar:nssv15755202; dbVar:nssv17969950; dbVar:nssv15141158; dbVar:nssv15132956 po_P_loss_coord : 4:51891815-76009719; 4:57466129-70721898; 4:58301080-100989502; 4:60739739-67897225; 4:61001838-73845800; 4:65151858-75851794; 4:65454563-72313693 po_P_loss_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00 |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_gain_source : dbVar B_gain_coord : chr4:66517237-66695186 B_gain_AFmax : 0.01 B_loss_source : dbVar; gnomAD-SV_v3_DEL_chr4_48ff321a B_loss_coord : chr4:65506280-67062809; chr4:66523632-66615670 B_loss_AFmax : 0.0641 po_B_gain_allG_source : . po_B_gain_allG_coord : . po_B_gain_someG_source : . po_B_gain_someG_coord : chr4:66517237-66695186 dbVar po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : chr4:66523632-66615670 dbVar po_B_loss_someG_coord : chr4:65506280-67062809 gnomAD-SV_v3_DEL_chr4_48ff321a |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : . Repeat_type_left : . Gap_left : . GC_content_left : 0.230 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : . Repeat_type_right : . Gap_right : . GC_content_right : 0.230 |
CHM13,HG02723,HG03540Samples_ID : CHM13,HG02723,HG03540 |
>19728935>19728937ID : >19728935>19728937 |
AREF : A |
AACTGGAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACT[...]ALT : AACTGGAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA |
60QUAL : 60 |
.FILTER : . |
AC=2; AF=0.0224719; AN=89; AT=>19728935>[...]INFO : AC=2; AF=0.0224719; AN=89; AT=>19728935>19728937,>19728935<19728936>19728937; LV=0; NS=45; e=66569896; s=327; rC=SINE/Alu |
GTFORMAT : GT |
0CHM13 : 0 |
0|0HG00438 : 0|0 |
0|0HG00621 : 0|0 |
0|0HG00673 : 0|0 |
0|0HG00733 : 0|0 |
0|0HG00735 : 0|0 |
0|0HG00741 : 0|0 |
0|0HG01071 : 0|0 |
0|0HG01106 : 0|0 |
0|0HG01109 : 0|0 |
0|0HG01123 : 0|0 |
0|0HG01175 : 0|0 |
0|0HG01243 : 0|0 |
0|0HG01258 : 0|0 |
0|0HG01358 : 0|0 |
0|0HG01361 : 0|0 |
0|0HG01891 : 0|0 |
0|0HG01928 : 0|0 |
0|0HG01952 : 0|0 |
0|0HG01978 : 0|0 |
0|0HG02055 : 0|0 |
0|0HG02080 : 0|0 |
0|0HG02109 : 0|0 |
0|0HG02145 : 0|0 |
0|0HG02148 : 0|0 |
0|0HG02257 : 0|0 |
0|0HG02486 : 0|0 |
0|0HG02559 : 0|0 |
0|0HG02572 : 0|0 |
0|0HG02622 : 0|0 |
0|0HG02630 : 0|0 |
0|0HG02717 : 0|0 |
0|1HG02723 : 0|1 |
0|0HG02818 : 0|0 |
0|0HG02886 : 0|0 |
0|0HG03098 : 0|0 |
0|0HG03453 : 0|0 |
0|0HG03486 : 0|0 |
0|0HG03492 : 0|0 |
0|0HG03516 : 0|0 |
0|1HG03540 : 0|1 |
0|0HG03579 : 0|0 |
0|0NA18906 : 0|0 |
0|0NA20129 : 0|0 |
0|0NA21309 : 0|0 |
|
NAACMG_class : NA AnnotSV_ranking_score : . AnnotSV_ranking_criteria : . |
INSSV_type : INS SV_length : 271 Gene_count : 0 |
fullAnnotation_mode : full |
.Gene_name : . LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . Closest_left : LOC105377261 Closest_right : MIR1269A |
.Location : . CytoBand : q13.2 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_gain_phen : . po_P_gain_hpo : . po_P_gain_source : dbVar:nssv15165478; dbVar:nssv15148693; dbVar:nssv15165480; dbVar:nssv15164282; dbVar:nssv15149870; nssv15151360; dbVar:nssv15120560; dbVar:nssv15145710; dbVar:nssv17956560; dbVar:nssv15153593 po_P_gain_coord : 4:11526-190107724; 4:12441-189983286; 4:49557-189994495; 4:49557-190042611; 4:68455-190036318; 4:51831623-66991489; 4:51831623-97505618; 4:52000779-142661354; 4:63839784-72603999 po_P_gain_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00 po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv17173265; dbVar:nssv15165214; dbVar:nssv15125766; dbVar:nssv15755202; dbVar:nssv17969950; dbVar:nssv15141158; dbVar:nssv15132956 po_P_loss_coord : 4:51891815-76009719; 4:57466129-70721898; 4:58301080-100989502; 4:60739739-67897225; 4:61001838-73845800; 4:65151858-75851794; 4:65454563-72313693 po_P_loss_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . B_loss_source : gnomAD-SV_v3_DEL_chr4_48ff321a B_loss_coord : chr4:65506280-67062809 B_loss_AFmax : 0.0641 po_B_gain_allG_source : . po_B_gain_allG_coord : . po_B_gain_someG_source : . po_B_gain_someG_coord : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : chr4:65506280-67062809 gnomAD-SV_v3_DEL_chr4_48ff321a |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : . Repeat_type_left : . Gap_left : . GC_content_left : 0.240 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : . Repeat_type_right : . Gap_right : . GC_content_right : 0.240 |
CHM13,HG03453,NA20129Samples_ID : CHM13,HG03453,NA20129 |
>19720242>19720244ID : >19720242>19720244 |
TREF : T |
TCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTC[...]ALT : TCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCG |
60QUAL : 60 |
.FILTER : . |
AC=2; AF=0.0224719; AN=89; AT=>19720242>[...]INFO : AC=2; AF=0.0224719; AN=89; AT=>19720242>19720244,>19720242<19720243>19720244; LV=0; NS=45; e=66252147; s=271; rC=SINE/Alu |
GTFORMAT : GT |
0CHM13 : 0 |
0|0HG00438 : 0|0 |
0|0HG00621 : 0|0 |
0|0HG00673 : 0|0 |
0|0HG00733 : 0|0 |
0|0HG00735 : 0|0 |
0|0HG00741 : 0|0 |
0|0HG01071 : 0|0 |
0|0HG01106 : 0|0 |
0|0HG01109 : 0|0 |
0|0HG01123 : 0|0 |
0|0HG01175 : 0|0 |
0|0HG01243 : 0|0 |
0|0HG01258 : 0|0 |
0|0HG01358 : 0|0 |
0|0HG01361 : 0|0 |
0|0HG01891 : 0|0 |
0|0HG01928 : 0|0 |
0|0HG01952 : 0|0 |
0|0HG01978 : 0|0 |
0|0HG02055 : 0|0 |
0|0HG02080 : 0|0 |
0|0HG02109 : 0|0 |
0|0HG02145 : 0|0 |
0|0HG02148 : 0|0 |
0|0HG02257 : 0|0 |
0|0HG02486 : 0|0 |
0|0HG02559 : 0|0 |
0|0HG02572 : 0|0 |
0|0HG02622 : 0|0 |
0|0HG02630 : 0|0 |
0|0HG02717 : 0|0 |
0|0HG02723 : 0|0 |
0|0HG02818 : 0|0 |
0|0HG02886 : 0|0 |
0|0HG03098 : 0|0 |
0|1HG03453 : 0|1 |
0|0HG03486 : 0|0 |
0|0HG03492 : 0|0 |
0|0HG03516 : 0|0 |
0|0HG03540 : 0|0 |
0|0HG03579 : 0|0 |
0|0NA18906 : 0|0 |
1|0NA20129 : 1|0 |
0|0NA21309 : 0|0 |
|
NAACMG_class : NA AnnotSV_ranking_score : . AnnotSV_ranking_criteria : . |
INSSV_type : INS SV_length : 6018 Gene_count : 0 |
fullAnnotation_mode : full |
.Gene_name : . LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . Closest_left : EPHA5-AS1 Closest_right : LOC105377258 |
.Location : . CytoBand : q13.2 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_gain_phen : . po_P_gain_hpo : . po_P_gain_source : dbVar:nssv15165478; dbVar:nssv15148693; dbVar:nssv15165480; dbVar:nssv15164282; dbVar:nssv15149870; nssv15151360; dbVar:nssv15120560; dbVar:nssv15145710; dbVar:nssv17956560; dbVar:nssv15153593 po_P_gain_coord : 4:11526-190107724; 4:12441-189983286; 4:49557-189994495; 4:49557-190042611; 4:68455-190036318; 4:51831623-66991489; 4:51831623-97505618; 4:52000779-142661354; 4:63839784-72603999 po_P_gain_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00 po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv17173265; dbVar:nssv15165214; dbVar:nssv15125766; dbVar:nssv15755202; dbVar:nssv17969950; dbVar:nssv15141158; dbVar:nssv15132956 po_P_loss_coord : 4:51891815-76009719; 4:57466129-70721898; 4:58301080-100989502; 4:60739739-67897225; 4:61001838-73845800; 4:65151858-75851794; 4:65454563-72313693 po_P_loss_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . B_loss_source : gnomAD-SV_v3_DEL_chr4_48ff321a B_loss_coord : chr4:65506280-67062809 B_loss_AFmax : 0.0641 po_B_gain_allG_source : . po_B_gain_allG_coord : . po_B_gain_someG_source : . po_B_gain_someG_coord : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : chr4:65506280-67062809 gnomAD-SV_v3_DEL_chr4_48ff321a |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 4:65712697-65714418 Repeat_type_left : L1MEf Gap_left : . GC_content_left : 0.280 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 4:65712697-65714418 Repeat_type_right : L1MEf Gap_right : . GC_content_right : 0.280 |
CHM13,NA21309Samples_ID : CHM13,NA21309 |
>19706480>19706483ID : >19706480>19706483 |
TREF : T |
TAAGAAACTAACGCCCAGCGTGAGCGACGCAGAAGACGGTGATTT[...]ALT : TAAGAAACTAACGCCCAGCGTGAGCGACGCAGAAGACGGTGATTTCTGCATTTCCATCTGAGGTACCGGGTTCATCTCACTAGGGAGTGCCAGACAGTGGGCGCAGGCCAGTGTGTGTGCGCACCGTGCGCAAGCCGAAGCAGGGCGAGGCATTGCCTCACCTGGGAAGCGCAAGGGGTCAGGGAGTTCCCTTTCCGAGTCAAAGAAAGGGGTGACGGACGCACCTGGAAAATCGGGTCACTCCCACCCGAATATTGCGCTTTTCAGACCGGCTTAAGAAACGGCGCAACACGAGACTATATCCCACACCTGGCTCGGAGGGTCCTACGCCCACGGAATCTCGCTGATTGCTAGCACAGCAGTCTGAGATCAAACTGCAAGGCGGCAACGAGGCTGGGGGAGGGGCGCCCGCCATTGCCCAGGCTTGCTTAGGTAAACAAAGCAGCCGGGAAGCTCGAACTGGGTGGAGCCCACCACAGCTCAAGGAGGCCTGACTGCCTCTGTAGGCTCCACCTCTGGGGGCAGGGCACAGACAAACAAAAAGACAGCAGTAACCTCTGCAGACTTAAGTGTCCCTGTCTGACAGCTTTGAAGAGAGCAGTGGTTCTCCCAGCACGCAGCTGGAGATCTGAGAACGGGCAGACTGCCTCCTCAAGTGGGTCCCTGACTCCTGACCCCCGAGCAGCCTAACTGGGAGGCACCCCCCAGCAGGGGCACACTGACACCTCACACGGCAGGGTATTCCAACAGACCTGCAGCTGAGGGTCCTGTCTGTTAGAAGGAAAACTAACAACCAGAAAGGACATCTACACCGAAAACCCATCTGTACATCACCATCATCAAAGACCAAAAGTAGATAAAACCACAAAGATGGGGAAAAAACAGAACAGAAAAACTGGAAACTCTAAAACGCAGAGCGCCTCTCCTCCTCCAAAGGAACGCAGTTCCTCACCAGCAACAGAACAAAGCTGGATGGAGAATGATTTTGATGAGCTGAGAGAAGAAGGCTTCAGACGATCAAATTACTCTGAGCTACGGGAGGACATTCAAACCAAAGGCAAAGAAGTTGAAAACTTTGAAAAAAATTTAGAAGAATGTATAACTAGAATAACCAATACAGAGAAGTGCTTAAAGGAGCTGATGGAGCTGAAAACCAAGGCTCGAGAACTACGTGAAGAATGCAGAAGCCTCAGGAGCCGATGCGATCAACTGGAAGAAAGGGTATCAGCAATGGAAGATGAAATGAATGAAATGAAGCGAGAAGGGAAGTTTAGAGAAAAAAGAATAAAAAGAAATGAGCAAAGCCTCCAAGAAATATGGGACTATGTGAAAAGACCAAATCTACGTCTGATTGGTGTACCTGAAAGTGATGTGGAGAATGGAACCAAGTTGGAAAACACTCTGCAGGAGATTATCCAGGAGAACTTCCCCAATCTAGCAAGGCAGGCCAACGTTCAGATTCAGGAAATACAGAGAACGCCACAAAGATACTCCTCGAGAAGAGCAACTCCAAGACACATAATTGTCAGATTCACCAAAGTTGAAATGAAGGAAAAAATGTTAAGGGCAGCCAGAGAGAAAGGTCGGGTTACCCTCAAAGGAAAGCCCATCAGACTAACAGCGGATCTCTCGGCAGAAACCCTACAAGCCAGAAGAGAGTGGGGGCCAATATTCAACATTCTTAAAGAAAAGAATTTTCAACCCAGAATTTCATATCCAGCCAAACTAAGCTTCATAAGTGAAGGAGAAATAAAATACTTTATAGACAAGCAAATGTTGAGAGATTTTGTCACCACCAGGCCTGCCCTAAAAGAGCTCCTGAAGGAAGCGCTAAACATGGAAAGGAACAACCGGTACCAGCCGCTGCAAAATCATGCCAAAATGTAAAGACCATCGAGACTAGGAAGAAACTGCATCAACTAATGAGCAAAATCACCAGCTAACATCATAATGACAGGATCAAATTCACACATAACAATATTAACTTTAAATATAAATGGACTAAATTCTGCAATTAAAAGACACAGACTGGCAAGTTGGATAAAGAGTCAAGACCCATCAGTGTGCTGTATTCAGGAAACCCATCTCACGTGCAGAGACACACATAGGCTCAAAATAAAAGGATGGAGGAAGATCTACCAAGCCAATGGAAAACAAAAAAAGGCAGGGGTTGCAATCCTAGTCTCTGATAAAACAGACTTTAAACCAACAAAGATCAAAAGAGACAAAGAAGGCCATTACATAATGGTAAAGGGATCAATTCAACAAGAGGAGCTAACTATCCTAAATATTTATGCACCCAATACAGGAGCACCCAGATTCATAAAGCAAGTCCTCAGTGACCTACAAAGAGACTTAGACTCCCACACATTAATAATGGGAGACTTTAACACCCCACTGTCAACATTAGACAGATCAACGAGACAGAAAGTCAACAAGGATACCCAGGAATTGAACTCAGCTCTGCACCAAGCAGACCTAATAGACATCTACAGAACTCTCCACCCCAAATCAACAGAATATACATTTTTTTCAGCACCACACCACACCTATTCCAAAATTGACCACATAGTTGGAAGTAAAGCTCTCCTCAGCAAATGTAAAAGAACAGAAATTATAACAAACTATCTCTCAGACCACAGTGCAATCAAACTAGAACTCAGGATTAAGAATCTCACTCAAAGCCGCTCAACTACATGGAAACTGAACAACCTGCTCCTGAATGACTACTGGGTACATAACGAAATGAAGGCAGAAATAAAGATGTTCTTTGAAACCAACGAGAACAAAGACACCACATACCAGAATCTCTGGGACGCATTCAAAGCAGTGTGTAGAGGGAAATTTATAGCACTAAATGCCTACAAGAGAAAGCAGGAAAGATCCAAAATTGACACCCTAACATCACAATTAAAAGAACTAGAAAAGCAAGAGCAAACACATTCAAAAGCTAGCAGAAGGCAAGAAATAACTAAAATCAGAGCAGAACTGAAGGAAATAGAGACACAAAAAACCCTTCAAAAAATCAATGAATCCAGGAGCTGGTTTTTTGAAAGGATCAACAAAATTGATAGACCGCTAGCAAGACTAATAAAGAAAAAAAGAGAGAAGAATCAAATAGACACAATAAAAAATGATAAAGGGGATATCACCACCGATCCCACAGAAATACAAACTACCATCAGAGAATACTACAAACACCTCTACGCAAATAAACTAGAAAATCTAGAAGAAATGGATACATTCCTCAACACATACACTCTCCCAAGACTAAACCAGGAAGAAGTTGAATCTCTGAATCGACCAATAACAGGCTCTGAAATTGTGGCAATAATCAATAGTTTACCAACCAAAAAGAGTCCAGGACCAGATGGATTCACAGCCGAATTCTACCAGAGGTACAAGGAGGAACTGGTACCATTCCTTCTGAAACTATTCCAATCAATAGAAAAAGAGGGAATCCTCCCTAACTCATTTTATGAGGCCAGCATCATTCTGATACCAAAGCCAGGCAGAGACACAACCAAAAAAGAGAATTTTAGACCAATATCCTTGATGAACATTGATGCAAAAATCCTCAATAAAATACTGGCAAACCGAATCCAGCAGCACATCAAAAAGCTTATCCACCATGATCAAGTGGGCTTCATCCCTGGGATGCAAGGCTGGTTCAATATACGCAAATCAATAAATGTAATCCAGCATATAAACAGAGCCAAAGACAAAAACCACATGATTATCTCAATAGATGCAGAAAAAGCCTTTGACAAAATTCAACAACCCTTCATGCTAAAAACTCTCAATAAATTAGGTATTGATGGGACGTATTTCAAAATAATAAGAGCTATCTATGACAAACCCACAGCCAATATCATACTGAATGGGCAAAAACTGGAAGCATTCCCTTTGAAAACCGGCACAAGACAGGGATGCCCTCTCTCACCGCTCCTATTCAACATAGTGTTGGAAGTTCTGGCCAGGGCAATCAGGCAGGAGAAGGAAATAAAGGGTATTCAATTAGGAAAAGAGGAAGTCAAATTGTCCCTGTTTGCAGACGACATGATTGTTTATCTAGAAAACCCCATCGTCTCAGCCCAAAATCTCCTTAAGCTGATAAGCAACTTCAGCAAAGTCTCAGGATACAAAATCAATGTACAAAAATCACAAGCATTCTTATACACCAACAACAGACAAACAGAGAGCCAAATCATGGGTGAACTCCCATTCACAATTGCTTCAAAGAGAATAAAATACCTAGGAATCCAACTTACAAGGGATGTGAAGGACCTCTTCAAGGAGAACTACAAACCACTGCTCAAGGAAATAAAAGAGGAGACAAACAAATGGAAGAACATTCCATGCTCATGGGTAGGAAGAATCAATATCGTGAAAATGGCCATACTGCCCAAGGTAATTTACAGATTCAATGCCATCCCCATCAAGCTACCAATGACTTTCTTCACAGAATTGGAAAAAACTACTTTAAAGTTCATATGGAACCAAAAAAGAGCCCGCATTGCCAAGTCAATCCTAAGCCAAAAGAACAAAGCTGGAGGCATCACACTACCTGACTTCAAACTATACTACAAGGCTACAGTAACCAAAACAGCATGGTACTGGTACCAAAACAGAGATATAGATCAATGGAACAGAACAGAGCCCTCAGAAATAATGCCGCTTATCTACAACTATCTGATCTTTGACAAACCTGAGAAAAACAAGCAATGGGGAAAGGATTCCCTATTTAATAAATGGTGCTGGGAAAACTGGCTAGCCATATGTAGAAAGCTGAAACTGGATCCCTTCCTTACACCTTATACAAAAATCAATTCAAGATGGATTAAAGATTTAAACGTTAAACCTAAAACCATAAAAACCCTAGAAGAAAACCTAGGCATTACCATTCAGGACATAGGCGTGGGCAAGGACTTCATGTCCAAAACACCAAAAGCAATGGCAACAAAAGACAAAATTGACAAATGGGATCTAATTAAACTAAAGAGCTTCTGCACAGCAAAAGAAACTACCATCAGAGTGAACAGGCAACCTACAACATGGGAGAAAATTTTTGCAACCTACTCATCTGACAAAGGGCTAATATCCAGAATCTACAATGAACTCAAACAAATTTACAAGAAAAAAACAAACAACCCCATCAAAAAGTGGGCGAAGGACATGAACAGACACTTCTCAAAAGAAGACATTTATGCAGCCAAAAAACACATGAAGAAATGCTCATCATCACTGGCCATCAGAGAAATGCAAATCAAAACCACTATGAGATATCATCTCACACCAGTTAGAATGGCAATCATTAAAAAGTCAGGAAACAACAGGTGCTGGAGAGGATGCGGAGAAATAGGAACACTTTTACACTGTTGGTGGGACTGTAAACTAGTTCAACCATTGTGGAAGTCAGTGTGGCGATTCCTCAGGGATCTAGAACTAGAAATACCATTTGACCCAGCCATCCCATTACTGGGTATATACCCAAATGAGTATAAATCATGCTGCTATAAAGACACATGCACACGTATGTTTATTGCGGCACTATTCACAATAGCAAAGACTTGGAACCAACCCAAATGTCCAACAATGATAGACTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTATGCAGCCATAAAAAATGATGAGTTCATATCCTTTGTAGGGACATGGATGAAATTGGAAACCATCATTCTCAGTAAACTATCGCAAGAACAAAAAACCAAACACCGCATATTCTCACTCATAGGTGGGAATTGAACAATGAGATCACATGGACACAGGAAGGGGAATATCACACTCTGGGGACTGTGGTGGGGTCGGGGGAGGGGGGAGGGATAGCATTGGGAGATATACCTAATGCTAGATGACACATTAGTGGGTGCAGCGCACCAGCATGGCACATGTATACATATGTAACTAACCTGCACAATGTGCACATGTACCCTAAAACTTAGAGTATAATAAAAAAAAAAAAATAATAAAAAAAAAAAAAAAAAAA |
60QUAL : 60 |
.FILTER : . |
AC=1; AF=0.011236; AN=89; AT=>19706480>[...]INFO : AC=1; AF=0.011236; AN=89; AT=>19706480>19706483,>19706480<19706481<19706482>19706483; LV=0; NS=45; e=65713277; s=6018; rC=LINE/L1 |
GTFORMAT : GT |
0CHM13 : 0 |
0|0HG00438 : 0|0 |
0|0HG00621 : 0|0 |
0|0HG00673 : 0|0 |
0|0HG00733 : 0|0 |
0|0HG00735 : 0|0 |
0|0HG00741 : 0|0 |
0|0HG01071 : 0|0 |
0|0HG01106 : 0|0 |
0|0HG01109 : 0|0 |
0|0HG01123 : 0|0 |
0|0HG01175 : 0|0 |
0|0HG01243 : 0|0 |
0|0HG01258 : 0|0 |
0|0HG01358 : 0|0 |
0|0HG01361 : 0|0 |
0|0HG01891 : 0|0 |
0|0HG01928 : 0|0 |
0|0HG01952 : 0|0 |
0|0HG01978 : 0|0 |
0|0HG02055 : 0|0 |
0|0HG02080 : 0|0 |
0|0HG02109 : 0|0 |
0|0HG02145 : 0|0 |
0|0HG02148 : 0|0 |
0|0HG02257 : 0|0 |
0|0HG02486 : 0|0 |
0|0HG02559 : 0|0 |
0|0HG02572 : 0|0 |
0|0HG02622 : 0|0 |
0|0HG02630 : 0|0 |
0|0HG02717 : 0|0 |
0|0HG02723 : 0|0 |
0|0HG02818 : 0|0 |
0|0HG02886 : 0|0 |
0|0HG03098 : 0|0 |
0|0HG03453 : 0|0 |
0|0HG03486 : 0|0 |
0|0HG03492 : 0|0 |
0|0HG03516 : 0|0 |
0|0HG03540 : 0|0 |
0|0HG03579 : 0|0 |
0|0NA18906 : 0|0 |
0|0NA20129 : 0|0 |
1|0NA21309 : 1|0 |
|
NAACMG_class : NA AnnotSV_ranking_score : . AnnotSV_ranking_criteria : . |
INSSV_type : INS SV_length : 326 Gene_count : 0 |
fullAnnotation_mode : full |
.Gene_name : . LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . Closest_left : LINC02232 Closest_right : LINC02835 |
.Location : . CytoBand : q13.1 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_gain_phen : . po_P_gain_hpo : . po_P_gain_source : dbVar:nssv15165478; dbVar:nssv15148693; dbVar:nssv15165480; dbVar:nssv15164282; dbVar:nssv15150634; dbVar:nssv15149870; nssv15151360; dbVar:nssv15120560; dbVar:nssv15145710; dbVar:nssv17956560; dbVar:nssv15153593 po_P_gain_coord : 4:11526-190107724; 4:12441-189983286; 4:49557-189994495; 4:49557-190042611; 4:68454-65574904; 4:68455-190036318; 4:51831623-66991489; 4:51831623-97505618; 4:52000779-142661354; 4:63839784-72603999 po_P_gain_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00 po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv17173265; dbVar:nssv15165214; dbVar:nssv15125766; dbVar:nssv15755202; dbVar:nssv17969950; dbVar:nssv15141158 po_P_loss_coord : 4:51891815-76009719; 4:57466129-70721898; 4:58301080-100989502; 4:60739739-67897225; 4:61001838-73845800; 4:65151858-75851794 po_P_loss_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00 |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_gain_source : dbVar B_gain_coord : chr4:65201484-65206491 B_gain_AFmax : 0.01 B_loss_source : dbVar B_loss_coord : chr4:65199320-65208213; chr4:65201484-65206491 B_loss_AFmax : 0.01 po_B_gain_allG_source : . po_B_gain_allG_coord : . po_B_gain_someG_source : . po_B_gain_someG_coord : chr4:65201484-65206491 dbVar po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : chr4:65201484-65206491 dbVar po_B_loss_someG_coord : chr4:65199320-65208213 dbVar |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 4:65204036-65204415 Repeat_type_left : MamRTE1 Gap_left : . GC_content_left : 0.385 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 4:65204036-65204415 Repeat_type_right : MamRTE1 Gap_right : . GC_content_right : 0.385 |
CHM13,HG02622Samples_ID : CHM13,HG02622 |
>19691368>19691370ID : >19691368>19691370 |
AREF : A |
ATCCTGTGATGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG[...]ALT : ATCCTGTGATGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGGTCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA |
60QUAL : 60 |
.FILTER : . |
AC=1; AF=0.011236; AN=89; AT=>19691368>[...]INFO : AC=1; AF=0.011236; AN=89; AT=>19691368>19691370,>19691368>19691369>19691370; LV=0; NS=45; e=65203969; s=326; rC=SINE/Alu |
GTFORMAT : GT |
0CHM13 : 0 |
0|0HG00438 : 0|0 |
0|0HG00621 : 0|0 |
0|0HG00673 : 0|0 |
0|0HG00733 : 0|0 |
0|0HG00735 : 0|0 |
0|0HG00741 : 0|0 |
0|0HG01071 : 0|0 |
0|0HG01106 : 0|0 |
0|0HG01109 : 0|0 |
0|0HG01123 : 0|0 |
0|0HG01175 : 0|0 |
0|0HG01243 : 0|0 |
0|0HG01258 : 0|0 |
0|0HG01358 : 0|0 |
0|0HG01361 : 0|0 |
0|0HG01891 : 0|0 |
0|0HG01928 : 0|0 |
0|0HG01952 : 0|0 |
0|0HG01978 : 0|0 |
0|0HG02055 : 0|0 |
0|0HG02080 : 0|0 |
0|0HG02109 : 0|0 |
0|0HG02145 : 0|0 |
0|0HG02148 : 0|0 |
0|0HG02257 : 0|0 |
0|0HG02486 : 0|0 |
0|0HG02559 : 0|0 |
0|0HG02572 : 0|0 |
1|0HG02622 : 1|0 |
0|0HG02630 : 0|0 |
0|0HG02717 : 0|0 |
0|0HG02723 : 0|0 |
0|0HG02818 : 0|0 |
0|0HG02886 : 0|0 |
0|0HG03098 : 0|0 |
0|0HG03453 : 0|0 |
0|0HG03486 : 0|0 |
0|0HG03492 : 0|0 |
0|0HG03516 : 0|0 |
0|0HG03540 : 0|0 |
0|0HG03579 : 0|0 |
0|0NA18906 : 0|0 |
0|0NA20129 : 0|0 |
0|0NA21309 : 0|0 |
|
NAACMG_class : NA AnnotSV_ranking_score : . AnnotSV_ranking_criteria : . |
INSSV_type : INS SV_length : 282 Gene_count : 0 |
fullAnnotation_mode : full |
.Gene_name : . LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . Closest_left : LOC105374037 Closest_right : LOC151760 |
.Location : . CytoBand : q13.13 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_gain_phen : . po_P_gain_hpo : . po_P_gain_source : dbVar:nssv15162889; dbVar:nssv15164144; dbVar:nssv15149891; nssv15151839; dbVar:nssv15148953; dbVar:nssv15148025; dbVar:nssv15146976 po_P_gain_coord : 3:18497-198221156; 3:19818-198111391; 3:20215-198125115; 3:93800621-145695381; 3:103426883-198110178; 3:104621221-116093884 po_P_gain_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00 po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15147282; dbVar:nssv15146259; dbVar:nssv18842017; dbVar:nssv15147452; dbVar:nssv15128639; dbVar:nssv16207911; dbVar:nssv15149305; dbVar:nssv17976878; dbVar:nssv18330718; dbVar:nssv15119835 po_P_loss_coord : 3:93819624-116887056; 3:93886672-123216683; 3:93979548-124774010; 3:97795370-115663349; 3:101431894-116529740; 3:102093402-112455638; 3:105375991-117723106; 3:106879921-115985849; 3:107340859-115286409; 3:108242573-116169331 po_P_loss_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00 |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_gain_source : dbVar B_gain_coord : chr3:110529680-111046402 B_gain_AFmax : 0.01 B_loss_source : dbVar; gnomAD-SV_v3_DEL_chr3_9b8d4286 B_loss_coord : chr3:11110259-145805573; chr3:108633893-111492183 B_loss_AFmax : 0.0446 po_B_gain_allG_source : . po_B_gain_allG_coord : . po_B_gain_someG_source : . po_B_gain_someG_coord : chr3:110529680-111046402 dbVar po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : chr3:108633893-111492183 dbVar po_B_loss_someG_coord : chr3:11110259-145805573 gnomAD-SV_v3_DEL_chr3_9b8d4286 |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : . Repeat_type_left : . Gap_left : . GC_content_left : 0.240 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : . Repeat_type_right : . Gap_right : . GC_content_right : 0.240 |
CHM13,HG00621,HG00673,HG00733,HG00741,HG01071[...]Samples_ID : CHM13,HG00621,HG00673,HG00733,HG00741,HG01071,HG01109,HG01175,HG01258,HG01358,HG01361,HG01928,HG01952,HG01978,HG02055,HG02080,HG02148,HG02717,HG02723,HG02818,HG03453,HG03486,HG03492,HG03540 |
>13234392>13234390ID : >13234392>13234390 |
CREF : C |
CTTGCAGTGGCGCAATCTCGGCTCACTGCAACCTCTGCCTCCCAG[...]ALT : CTTGCAGTGGCGCAATCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTCCCTCAGCCTCCCAAGTGGCTGGAATTACAGGCATGGGCCACCATACTTGGCTAATTTTGTATTTTTAGTAGAGATGGGATTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCGACCTCCACCCCACCTTGGCCTCCCAAAGTACTGGGATTACAGGCATGAGCCACAGCGCTTGGCCCCCCCTGTTTTTTTTTAACAAATGAGAAATAAGAAAAGTGG |
60QUAL : 60 |
.FILTER : . |
AC=35; AF=0.393258; AN=89; AT=>13234392>[...]INFO : AC=35; AF=0.393258; AN=89; AT=>13234392>13234390,>13234392<13234391>13234390; LV=0; NS=45; e=110694547; s=282; rC=SINE/Alu |
GTFORMAT : GT |
1CHM13 : 1 |
0|0HG00438 : 0|0 |
0|1HG00621 : 0|1 |
1|1HG00673 : 1|1 |
0|1HG00733 : 0|1 |
0|0HG00735 : 0|0 |
0|1HG00741 : 0|1 |
0|1HG01071 : 0|1 |
0|0HG01106 : 0|0 |
1|1HG01109 : 1|1 |
0|0HG01123 : 0|0 |
1|1HG01175 : 1|1 |
0|0HG01243 : 0|0 |
1|1HG01258 : 1|1 |
0|1HG01358 : 0|1 |
1|1HG01361 : 1|1 |
0|0HG01891 : 0|0 |
1|1HG01928 : 1|1 |
1|1HG01952 : 1|1 |
1|1HG01978 : 1|1 |
1|1HG02055 : 1|1 |
1|1HG02080 : 1|1 |
0|0HG02109 : 0|0 |
0|0HG02145 : 0|0 |
1|0HG02148 : 1|0 |
0|0HG02257 : 0|0 |
0|0HG02486 : 0|0 |
0|0HG02559 : 0|0 |
0|0HG02572 : 0|0 |
0|0HG02622 : 0|0 |
0|0HG02630 : 0|0 |
0|1HG02717 : 0|1 |
0|1HG02723 : 0|1 |
0|1HG02818 : 0|1 |
0|0HG02886 : 0|0 |
0|0HG03098 : 0|0 |
1|0HG03453 : 1|0 |
1|0HG03486 : 1|0 |
1|1HG03492 : 1|1 |
0|0HG03516 : 0|0 |
1|0HG03540 : 1|0 |
0|0HG03579 : 0|0 |
0|0NA18906 : 0|0 |
0|0NA20129 : 0|0 |
0|0NA21309 : 0|0 |
|
NAACMG_class : NA AnnotSV_ranking_score : . AnnotSV_ranking_criteria : . |
INSSV_type : INS SV_length : 319 Gene_count : 0 |
fullAnnotation_mode : full |
.Gene_name : . LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . Closest_left : LOC105373855 Closest_right : LOC101927960 |
.Location : . CytoBand : q34 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_gain_phen : . po_P_gain_hpo : . po_P_gain_source : dbVar:nssv17976961; dbVar:nssv15161685; nssv15161863; dbVar:nssv15174359; dbVar:nssv15174602; dbVar:nssv16207855; dbVar:nssv17969793; dbVar:nssv16254741; dbVar:nssv15147432; dbVar:nssv18842075; dbVar:nssv15755802; dbVar:nssv15147151; dbVar:nssv15148951; dbVar:nssv15145778; dbVar:nssv15145678; dbVar:nssv15152823 po_P_gain_coord : 2:10002-242157305; 2:12772-241841232; 2:14239-242106609; 2:15673-242157305; 2:162376653-211062464; 2:168973465-214656712; 2:177533232-242065306; 2:180513794-224302848; 2:185833778-223053393; 2:188062202-224433936; 2:188818196-242065208; 2:189436150-241841232; 2:190310737-241892770; 2:194898784-236473913; 2:204304426-218284570 po_P_gain_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00 po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15124851; dbVar:nssv17976941; dbVar:nssv18330068; dbVar:nssv15145974; dbVar:nssv15148999; dbVar:nssv15148911; dbVar:nssv16253926; dbVar:nssv15137579; dbVar:nssv15136737; dbVar:nssv15121130 po_P_loss_coord : 2:50659295-242160331; 2:184832933-212137349; 2:189045179-208603658; 2:192938827-215705052; 2:199937274-210031924; 2:199946495-209985195; 2:203580897-211716063; 2:204906844-210031449; 2:207058887-211245603; 2:208179266-209331482 po_P_loss_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . B_loss_source : gnomAD-SV_v3_DEL_chr2_d8522047 B_loss_coord : chr2:148424217-233186659 B_loss_AFmax : 0.0146 po_B_gain_allG_source : . po_B_gain_allG_coord : . po_B_gain_someG_source : . po_B_gain_someG_coord : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : chr2:148424217-233186659 gnomAD-SV_v3_DEL_chr2_d8522047 |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : . Repeat_type_left : . Gap_left : . GC_content_left : 0.320 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : . Repeat_type_right : . Gap_right : . GC_content_right : 0.315 |
CHM13,HG02257,HG02486,HG02559,HG02572,HG02622[...]Samples_ID : CHM13,HG02257,HG02486,HG02559,HG02572,HG02622,NA18906,NA20129 |
>11528771>11528773ID : >11528771>11528773 |
TREF : T |
TCGAGGTAGAGGCCGGGCGCGGTGGCTCACGTCTGTAATGCCAGC[...]ALT : TCGAGGTAGAGGCCGGGCGCGGTGGCTCACGTCTGTAATGCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCCACCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAGAT |
60QUAL : 60 |
.FILTER : . |
AC=8; AF=0.0898876; AN=89; AT=>11528771>[...]INFO : AC=8; AF=0.0898876; AN=89; AT=>11528771>11528773,>11528771>11528772>11528773; LV=0; NS=45; e=208530881; s=319; rC=SINE/Alu |
GTFORMAT : GT |
0CHM13 : 0 |
0|0HG00438 : 0|0 |
0|0HG00621 : 0|0 |
0|0HG00673 : 0|0 |
0|0HG00733 : 0|0 |
0|0HG00735 : 0|0 |
0|0HG00741 : 0|0 |
0|0HG01071 : 0|0 |
0|0HG01106 : 0|0 |
0|0HG01109 : 0|0 |
0|0HG01123 : 0|0 |
0|0HG01175 : 0|0 |
0|0HG01243 : 0|0 |
0|0HG01258 : 0|0 |
0|0HG01358 : 0|0 |
0|0HG01361 : 0|0 |
0|0HG01891 : 0|0 |
0|0HG01928 : 0|0 |
0|0HG01952 : 0|0 |
0|0HG01978 : 0|0 |
0|0HG02055 : 0|0 |
0|0HG02080 : 0|0 |
0|0HG02109 : 0|0 |
0|0HG02145 : 0|0 |
0|0HG02148 : 0|0 |
1|0HG02257 : 1|0 |
1|0HG02486 : 1|0 |
0|1HG02559 : 0|1 |
0|1HG02572 : 0|1 |
0|1HG02622 : 0|1 |
0|0HG02630 : 0|0 |
0|0HG02717 : 0|0 |
0|0HG02723 : 0|0 |
0|0HG02818 : 0|0 |
0|0HG02886 : 0|0 |
0|0HG03098 : 0|0 |
0|0HG03453 : 0|0 |
0|0HG03486 : 0|0 |
0|0HG03492 : 0|0 |
0|0HG03516 : 0|0 |
0|0HG03540 : 0|0 |
0|0HG03579 : 0|0 |
0|1NA18906 : 0|1 |
1|1NA20129 : 1|1 |
0|0NA21309 : 0|0 |
|
NAACMG_class : NA AnnotSV_ranking_score : . AnnotSV_ranking_criteria : . |
INSSV_type : INS SV_length : 324 Gene_count : 0 |
fullAnnotation_mode : full |
.Gene_name : . LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . Closest_left : FZD5 Closest_right : PLEKHM3 |
.Location : . CytoBand : q33.3 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_gain_phen : . po_P_gain_hpo : . po_P_gain_source : dbVar:nssv17976961; dbVar:nssv15161685; nssv15161863; dbVar:nssv15174359; dbVar:nssv15174602; dbVar:nssv16207855; dbVar:nssv17969793; dbVar:nssv16254741; dbVar:nssv15147432; dbVar:nssv18842075; dbVar:nssv15755802; dbVar:nssv15147151; dbVar:nssv15148951; dbVar:nssv15145778; dbVar:nssv15145678; dbVar:nssv15152823 po_P_gain_coord : 2:10002-242157305; 2:12772-241841232; 2:14239-242106609; 2:15673-242157305; 2:162376653-211062464; 2:168973465-214656712; 2:177533232-242065306; 2:180513794-224302848; 2:185833778-223053393; 2:188062202-224433936; 2:188818196-242065208; 2:189436150-241841232; 2:190310737-241892770; 2:194898784-236473913; 2:204304426-218284570 po_P_gain_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00 po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15124851; dbVar:nssv17976941; dbVar:nssv18330068; dbVar:nssv15145974; dbVar:nssv15148999; dbVar:nssv15148911; dbVar:nssv17969803; dbVar:nssv16253926; dbVar:nssv15137579; dbVar:nssv15136737 po_P_loss_coord : 2:50659295-242160331; 2:184832933-212137349; 2:189045179-208603658; 2:192938827-215705052; 2:199937274-210031924; 2:199946495-209985195; 2:199986357-208189543; 2:203580897-211716063; 2:204906844-210031449; 2:207058887-211245603 po_P_loss_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00 |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_gain_source : dbVar B_gain_coord : chr2:207552359-207834863 B_gain_AFmax : 0.01 B_loss_source : gnomAD-SV_v3_DEL_chr2_d8522047 B_loss_coord : chr2:148424217-233186659 B_loss_AFmax : 0.0146 po_B_gain_allG_source : . po_B_gain_allG_coord : . po_B_gain_someG_source : . po_B_gain_someG_coord : chr2:207552359-207834863 dbVar po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : chr2:148424217-233186659 gnomAD-SV_v3_DEL_chr2_d8522047 |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 2:207793360-207793665; 2:207793666-207793930 Repeat_type_left : AluSg; L1ME2 Gap_left : . GC_content_left : 0.385 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 2:207793360-207793665; 2:207793666-207793930 Repeat_type_right : AluSg; L1ME2 Gap_right : . GC_content_right : 0.380 |
CHM13,HG01106,HG02109,HG02486,HG02572,HG02622[...]Samples_ID : CHM13,HG01106,HG02109,HG02486,HG02572,HG02622,HG02630,HG02717,HG02723,HG02886,HG03492 |
>11509366>11509368ID : >11509366>11509368 |
AREF : A |
AATTATGTTGAGTGAGGCCGGGCGCGGTGGCTCACGCCTGTAATC[...]ALT : AATTATGTTGAGTGAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGACCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAGAA |
60QUAL : 60 |
.FILTER : . |
AC=10; AF=0.11236; AN=89; AT=>11509366>[...]INFO : AC=10; AF=0.11236; AN=89; AT=>11509366>11509368,>11509366>11509367>11509368; LV=0; NS=45; e=207793703; s=324; rC=SINE/Alu |
GTFORMAT : GT |
0CHM13 : 0 |
0|0HG00438 : 0|0 |
0|0HG00621 : 0|0 |
0|0HG00673 : 0|0 |
0|0HG00733 : 0|0 |
0|0HG00735 : 0|0 |
0|0HG00741 : 0|0 |
0|0HG01071 : 0|0 |
0|1HG01106 : 0|1 |
0|0HG01109 : 0|0 |
0|0HG01123 : 0|0 |
0|0HG01175 : 0|0 |
0|0HG01243 : 0|0 |
0|0HG01258 : 0|0 |
0|0HG01358 : 0|0 |
0|0HG01361 : 0|0 |
0|0HG01891 : 0|0 |
0|0HG01928 : 0|0 |
0|0HG01952 : 0|0 |
0|0HG01978 : 0|0 |
0|0HG02055 : 0|0 |
0|0HG02080 : 0|0 |
1|0HG02109 : 1|0 |
0|0HG02145 : 0|0 |
0|0HG02148 : 0|0 |
0|0HG02257 : 0|0 |
1|0HG02486 : 1|0 |
0|0HG02559 : 0|0 |
1|0HG02572 : 1|0 |
1|0HG02622 : 1|0 |
1|0HG02630 : 1|0 |
0|1HG02717 : 0|1 |
0|1HG02723 : 0|1 |
0|0HG02818 : 0|0 |
0|1HG02886 : 0|1 |
0|0HG03098 : 0|0 |
0|0HG03453 : 0|0 |
0|0HG03486 : 0|0 |
1|0HG03492 : 1|0 |
0|0HG03516 : 0|0 |
0|0HG03540 : 0|0 |
0|0HG03579 : 0|0 |
0|0NA18906 : 0|0 |
0|0NA20129 : 0|0 |
0|0NA21309 : 0|0 |
|
NAACMG_class : NA AnnotSV_ranking_score : . AnnotSV_ranking_criteria : . |
INSSV_type : INS SV_length : 217 Gene_count : 0 |
fullAnnotation_mode : full |
.Gene_name : . LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . Closest_left : LOC124906057 Closest_right : SLC5A7 |
.Location : . CytoBand : q12.3 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_gain_phen : . po_P_gain_hpo : . po_P_gain_source : dbVar:nssv17976961; dbVar:nssv15161685; nssv15161863; dbVar:nssv15174359; dbVar:nssv15174602; dbVar:nssv15148156; dbVar:nssv15152720; dbVar:nssv15147149; dbVar:nssv15146324; dbVar:nssv15147463; dbVar:nssv15151697 po_P_gain_coord : 2:10002-242157305; 2:12772-241841232; 2:14239-242106609; 2:15673-242157305; 2:94678533-110602409; 2:95687283-113287886; 2:97672523-110211318; 2:100378511-108472871; 2:101710826-110791418; 2:106479968-111478150 po_P_gain_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00 po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv18326420; dbVar:nssv15155128; dbVar:nssv15124851; dbVar:nssv15146967; dbVar:nssv17956361; dbVar:nssv15152708; dbVar:nssv16254438; dbVar:nssv17969746; dbVar:nssv16207824 po_P_loss_coord : 2:11364193-110608419; 2:40379903-146145196; 2:50659295-242160331; 2:105806854-114297251; 2:106404327-109451929; 2:106404327-110608419; 2:106413225-112430165; 2:107830500-109746741; 2:107883354-109746741 po_P_loss_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00 |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_gain_source : dbVar B_gain_coord : chr2:107278045-108189618; chr2:107905718-107922536 B_gain_AFmax : 0.01 B_loss_source : 1000g; dbVar; gnomAD-SV_v3_DEL_chr2_8881e883 B_loss_coord : chr2:106014408-123234450; chr2:107905718-107922536; 2:107905719-107922536; chr2:107911844-107922094 B_loss_AFmax : 0.2151 po_B_gain_allG_source : . po_B_gain_allG_coord : . po_B_gain_someG_source : chr2:107905718-107922536 dbVar po_B_gain_someG_coord : chr2:107278045-108189618 dbVar po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : chr2:107905718-107922536 dbVar; chr2:107911844-107922094 dbVar po_B_loss_someG_coord : chr2:106014408-123234450 gnomAD-SV_v3_DEL_chr2_8881e883; 2:107905719-107922536 1000g |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : 2:107905668-107924082 Repeat_coord_left : 2:107913473-107914887 Repeat_type_left : L1MA5 Gap_left : . GC_content_left : 0.375 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : 2:107905668-107924082 Repeat_coord_right : 2:107913473-107914887 Repeat_type_right : L1MA5 Gap_right : . GC_content_right : 0.375 |
CHM13,HG02257,HG02572,HG02717,HG02818,HG02886[...]Samples_ID : CHM13,HG02257,HG02572,HG02717,HG02818,HG02886,HG03098,HG03486,HG03540,HG03579,NA18906 |
>9705218>9705220ID : >9705218>9705220 |
CREF : C |
CATAAAAACAGGTACATAGACTACTGAAACAGAATAGAGAACCCA[...]ALT : CATAAAAACAGGTACATAGACTACTGAAACAGAATAGAGAACCCAGAAATAAATACATGTATCTACAGCCAACTGATTTTCAACAAAGACATCAAGAATATACATTGGCAAAAGGACAGCCTCTTCAATAAGTGGTAATGAGAAAACTGGATATCCATATGCAGAAGAATAAAACTAGACCCCTATCTCTCACCATATACAAAAATAAACTCAAATGG |
60QUAL : 60 |
.FILTER : . |
AC=11; AF=0.123596; AN=89; AT=>9705218>[...]INFO : AC=11; AF=0.123596; AN=89; AT=>9705218>9705220,>9705218<9705219>9705220; LV=0; NS=45; e=107913977; s=217; rC=LINE/L1 |
GTFORMAT : GT |
0CHM13 : 0 |
0|0HG00438 : 0|0 |
0|0HG00621 : 0|0 |
0|0HG00673 : 0|0 |
0|0HG00733 : 0|0 |
0|0HG00735 : 0|0 |
0|0HG00741 : 0|0 |
0|0HG01071 : 0|0 |
0|0HG01106 : 0|0 |
0|0HG01109 : 0|0 |
0|0HG01123 : 0|0 |
0|0HG01175 : 0|0 |
0|0HG01243 : 0|0 |
0|0HG01258 : 0|0 |
0|0HG01358 : 0|0 |
0|0HG01361 : 0|0 |
0|0HG01891 : 0|0 |
0|0HG01928 : 0|0 |
0|0HG01952 : 0|0 |
0|0HG01978 : 0|0 |
0|0HG02055 : 0|0 |
0|0HG02080 : 0|0 |
0|0HG02109 : 0|0 |
0|0HG02145 : 0|0 |
0|0HG02148 : 0|0 |
1|0HG02257 : 1|0 |
0|0HG02486 : 0|0 |
0|0HG02559 : 0|0 |
0|1HG02572 : 0|1 |
0|0HG02622 : 0|0 |
0|0HG02630 : 0|0 |
0|1HG02717 : 0|1 |
0|0HG02723 : 0|0 |
1|1HG02818 : 1|1 |
0|1HG02886 : 0|1 |
1|0HG03098 : 1|0 |
0|0HG03453 : 0|0 |
1|0HG03486 : 1|0 |
0|0HG03492 : 0|0 |
0|0HG03516 : 0|0 |
0|1HG03540 : 0|1 |
1|0HG03579 : 1|0 |
1|0NA18906 : 1|0 |
0|0NA20129 : 0|0 |
0|0NA21309 : 0|0 |